Portal Investigación UEx

Meningitis Caused By Brucella. Apropos Of A Case

Seasonal Influenza Vaccination In Childhood And Adolescence. Consensus Of The Aev, Cav-Aep And Seip

Prognostic Factors Of Late-Onset Hearing Loss In Infants With Congenital Cytomegalovirus And Normal Audiologic Assessment At Birth

Seasonal Influenza Vaccination In Childhood And Adolescence. Consensus Of The Aev, Cav-Aep And Seip

Prognostic Factors Of Late-Onset Hearing Loss In Infants With Congenital Cytomegalovirus And Normal Audiologic Assessment At Birth

Impact Of Current Influenza Vaccination Recommendations In Risk Groups

Prognostic Factors Of Late-Onset Hearing Loss In Infants With Congenital Cytomegalovirus And Normal Audiologic Assessment At Birth

Impact Of Current Influenza Vaccination Recommendations In Risk Groups

Clinical And Molecular Profiling In Gnao1 Permits Phenotype–genotype Correlation

Impact Of Current Influenza Vaccination Recommendations In Risk Groups

Clinical And Molecular Profiling In Gnao1 Permits Phenotype–genotype Correlation

Identification Of Copy-Number Variants In Patients With Overgrowth Disorders

Clinical And Molecular Profiling In Gnao1 Permits Phenotype–genotype Correlation

Identification Of Copy-Number Variants In Patients With Overgrowth Disorders

Idiopathic Intracranial Hypertension. Review Of Our Experience In The Last Eight Years (2016-2023)

Identification Of Copy-Number Variants In Patients With Overgrowth Disorders

Idiopathic Intracranial Hypertension. Review Of Our Experience In The Last Eight Years (2016-2023)

Expert Consensus For The Management Of Patients With Achondroplasia In Treatment With Vosoritide

Idiopathic Intracranial Hypertension. Review Of Our Experience In The Last Eight Years (2016-2023)

Expert Consensus For The Management Of Patients With Achondroplasia In Treatment With Vosoritide

Antiviral Treatment And Risk Of Hearing Loss In Asymptomatic And Mild Symptomatic Infants With Congenital Cytomegalovirus

Expert Consensus For The Management Of Patients With Achondroplasia In Treatment With Vosoritide

Antiviral Treatment And Risk Of Hearing Loss In Asymptomatic And Mild Symptomatic Infants With Congenital Cytomegalovirus

Vaccination Schedule For Adolescents. Consensus Of The Aev, Cav-Aep And Sema

Antiviral Treatment And Risk Of Hearing Loss In Asymptomatic And Mild Symptomatic Infants With Congenital Cytomegalovirus

Vaccination Schedule For Adolescents. Consensus Of The Aev, Cav-Aep And Sema

Clinprior: An Algorithm For Diagnosis And Novel Gene Discovery By Network-Based Prioritization

Vaccination Schedule For Adolescents. Consensus Of The Aev, Cav-Aep And Sema

Clinprior: An Algorithm For Diagnosis And Novel Gene Discovery By Network-Based Prioritization

Pleural Effusion In A Child With A Correctly Placed Ventricle-Peritoneal Shunt

Clinprior: An Algorithm For Diagnosis And Novel Gene Discovery By Network-Based Prioritization

Pleural Effusion In A Child With A Correctly Placed Ventricle-Peritoneal Shunt

Epidemiology, Prevention And Control Of Pertussis In Spain: New Vaccination Strategies For Lifelong Protection

Pleural Effusion In A Child With A Correctly Placed Ventricle-Peritoneal Shunt

Epidemiology, Prevention And Control Of Pertussis In Spain: New Vaccination Strategies For Lifelong Protection

Variability In Phelan-Mcdermid Syndrome In A Cohort Of 210 Individuals

Epidemiology, Prevention And Control Of Pertussis In Spain: New Vaccination Strategies For Lifelong Protection

Variability In Phelan-Mcdermid Syndrome In A Cohort Of 210 Individuals

Genetic Diagnosis Of Basal Ganglia Disease In Childhood

Variability In Phelan-Mcdermid Syndrome In A Cohort Of 210 Individuals

Genetic Diagnosis Of Basal Ganglia Disease In Childhood

Author Correction: The Utility Of Next Generation Sequencing For Molecular Diagnostics In Rett Syndrome (Scientific Reports, (2017), 7, 1, (12288), 10.1038/s41598-017-11620-3)

Genetic Diagnosis Of Basal Ganglia Disease In Childhood

Author Correction: The Utility Of Next Generation Sequencing For Molecular Diagnostics In Rett Syndrome (Scientific Reports, (2017), 7, 1, (12288), 10.1038/s41598-017-11620-3)

Author Correction: Genetic Landscape Of 6089 Inherited Retinal Dystrophies Affected Cases In Spain And Their Therapeutic And Extended Epidemiological Implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-Y)

Author Correction: The Utility Of Next Generation Sequencing For Molecular Diagnostics In Rett Syndrome (Scientific Reports, (2017), 7, 1, (12288), 10.1038/s41598-017-11620-3)

Author Correction: Genetic Landscape Of 6089 Inherited Retinal Dystrophies Affected Cases In Spain And Their Therapeutic And Extended Epidemiological Implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-Y)

Genetic Landscape Of 6089 Inherited Retinal Dystrophies Affected Cases In Spain And Their Therapeutic And Extended Epidemiological Implications

Author Correction: Genetic Landscape Of 6089 Inherited Retinal Dystrophies Affected Cases In Spain And Their Therapeutic And Extended Epidemiological Implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-Y)

Genetic Landscape Of 6089 Inherited Retinal Dystrophies Affected Cases In Spain And Their Therapeutic And Extended Epidemiological Implications

Early Clinical And Radiological Improvement In A Young Boy With Metaphyseal Anadysplasia Type 2

Genetic Landscape Of 6089 Inherited Retinal Dystrophies Affected Cases In Spain And Their Therapeutic And Extended Epidemiological Implications

Early Clinical And Radiological Improvement In A Young Boy With Metaphyseal Anadysplasia Type 2

Schuurs–hoeijmakers Syndrome (Pacs1 Neurodevelopmental Disorder): Seven Novel Patients And A Review

Early Clinical And Radiological Improvement In A Young Boy With Metaphyseal Anadysplasia Type 2

Schuurs–hoeijmakers Syndrome (Pacs1 Neurodevelopmental Disorder): Seven Novel Patients And A Review

Recovering Lost Vaccine Coverage Due To Covid-19 Pandemic

Schuurs–hoeijmakers Syndrome (Pacs1 Neurodevelopmental Disorder): Seven Novel Patients And A Review

Recovering Lost Vaccine Coverage Due To Covid-19 Pandemic

X Chromosome Inactivation Does Not Necessarily Determine The Severity Of The Phenotype In Rett Syndrome Patients

Recovering Lost Vaccine Coverage Due To Covid-19 Pandemic

X Chromosome Inactivation Does Not Necessarily Determine The Severity Of The Phenotype In Rett Syndrome Patients

The Effect Of Copy Number Variations In Chromosome 16p On Body Weight In Patients With Intellectual Disability

X Chromosome Inactivation Does Not Necessarily Determine The Severity Of The Phenotype In Rett Syndrome Patients

The Effect Of Copy Number Variations In Chromosome 16p On Body Weight In Patients With Intellectual Disability

Anomalías Cromosómicas

The Effect Of Copy Number Variations In Chromosome 16p On Body Weight In Patients With Intellectual Disability

Anomalías Cromosómicas

The Utility Of Next Generation Sequencing For Molecular Diagnostics In Rett Syndrome

Anomalías Cromosómicas

The Utility Of Next Generation Sequencing For Molecular Diagnostics In Rett Syndrome

Pitfalls Of Trio-Based Exome Sequencing: Imprinted Genes And Parental Mosaicism - Magel2 As An Example

The Utility Of Next Generation Sequencing For Molecular Diagnostics In Rett Syndrome

Pitfalls Of Trio-Based Exome Sequencing: Imprinted Genes And Parental Mosaicism - Magel2 As An Example

Complications Related To Turner Syndrome

Pitfalls Of Trio-Based Exome Sequencing: Imprinted Genes And Parental Mosaicism - Magel2 As An Example

Complications Related To Turner Syndrome

A Scoring System To Predict The Severity Of Hirschsprung Disease At Diagnosis And Its Correlation With Molecular Genetics

Complications Related To Turner Syndrome

A Scoring System To Predict The Severity Of Hirschsprung Disease At Diagnosis And Its Correlation With Molecular Genetics

Management And Monitoring Of Patients With Duchenne Disease

A Scoring System To Predict The Severity Of Hirschsprung Disease At Diagnosis And Its Correlation With Molecular Genetics

Management And Monitoring Of Patients With Duchenne Disease

Erratum: Estimate Of The Impact Of Influenza Vaccination With Adjuvant Mr59 In Population Over 64 Years For The National Health System: Effects And Costs (Vacunas (2015) 16, 1:6-11))

Management And Monitoring Of Patients With Duchenne Disease

Erratum: Estimate Of The Impact Of Influenza Vaccination With Adjuvant Mr59 In Population Over 64 Years For The National Health System: Effects And Costs (Vacunas (2015) 16, 1:6-11))

Estimate Of The Impact Of Influenza Vaccination With Adjuvant Mr59 In Population Over 64 Years For The National Health System: Effects And Costs

Erratum: Estimate Of The Impact Of Influenza Vaccination With Adjuvant Mr59 In Population Over 64 Years For The National Health System: Effects And Costs (Vacunas (2015) 16, 1:6-11))

Estimate Of The Impact Of Influenza Vaccination With Adjuvant Mr59 In Population Over 64 Years For The National Health System: Effects And Costs

Anomalías Cromosómicas

Estimate Of The Impact Of Influenza Vaccination With Adjuvant Mr59 In Population Over 64 Years For The National Health System: Effects And Costs

Anomalías Cromosómicas

Waardenburg Syndrome Type 4: Report Of Two New Cases Caused By Sox10 Mutations In Spain

Anomalías Cromosómicas

Waardenburg Syndrome Type 4: Report Of Two New Cases Caused By Sox10 Mutations In Spain

Asesoramiento Genético Y Enfermedades Metabólicas Hereditarias

Waardenburg Syndrome Type 4: Report Of Two New Cases Caused By Sox10 Mutations In Spain

Asesoramiento Genético Y Enfermedades Metabólicas Hereditarias

Clinical Genetics And Constipation

Asesoramiento Genético Y Enfermedades Metabólicas Hereditarias

Clinical Genetics And Constipation

Safety And Immunogenicity Of 13-Valent Pneumococcal Conjugate Vaccine In Infants: A Meta-Analysis

Clinical Genetics And Constipation

Safety And Immunogenicity Of 13-Valent Pneumococcal Conjugate Vaccine In Infants: A Meta-Analysis

Assessment Of The Mf59-Adjuvanted Pandemic Influenza A/h1n1 Vaccine. Systematic Review Of Literature

Safety And Immunogenicity Of 13-Valent Pneumococcal Conjugate Vaccine In Infants: A Meta-Analysis

Assessment Of The Mf59-Adjuvanted Pandemic Influenza A/h1n1 Vaccine. Systematic Review Of Literature

Mll2 Mutation Detection In 86 Patients With Kabuki Syndrome: A Genotype-Phenotype Study

Assessment Of The Mf59-Adjuvanted Pandemic Influenza A/h1n1 Vaccine. Systematic Review Of Literature

Mll2 Mutation Detection In 86 Patients With Kabuki Syndrome: A Genotype-Phenotype Study

Clinical Manifestations In Female Carriers Of Mucopolysaccharidosis Type Ii: A Spanish Cross-Sectional Study

Mll2 Mutation Detection In 86 Patients With Kabuki Syndrome: A Genotype-Phenotype Study

Clinical Manifestations In Female Carriers Of Mucopolysaccharidosis Type Ii: A Spanish Cross-Sectional Study

Primary Trimethylaminuria Or Fish Odour Syndrome: Early Diagnosis From Primary Care

Clinical Manifestations In Female Carriers Of Mucopolysaccharidosis Type Ii: A Spanish Cross-Sectional Study

Primary Trimethylaminuria Or Fish Odour Syndrome: Early Diagnosis From Primary Care

Allgrove Syndrome (Triple A). Finding Of A Mutation Not Described In The Aaas Gene

Primary Trimethylaminuria Or Fish Odour Syndrome: Early Diagnosis From Primary Care

Allgrove Syndrome (Triple A). Finding Of A Mutation Not Described In The Aaas Gene

Central Nervous System Chemotoxicity During Treatment Of Pediatric Acute Lymphoblastic Leukemia/lymphoma

Allgrove Syndrome (Triple A). Finding Of A Mutation Not Described In The Aaas Gene

Central Nervous System Chemotoxicity During Treatment Of Pediatric Acute Lymphoblastic Leukemia/lymphoma

Genetic Studies In Non-Specific Mental Retardation

Central Nervous System Chemotoxicity During Treatment Of Pediatric Acute Lymphoblastic Leukemia/lymphoma

Genetic Studies In Non-Specific Mental Retardation

Methotrexate-Induced Subacute Neurotoxicity In A Child With Acute Lymphoblastic Leukemia Carrying Genetic Polymorphisms Related To Folate Homeostasis

Genetic Studies In Non-Specific Mental Retardation

Methotrexate-Induced Subacute Neurotoxicity In A Child With Acute Lymphoblastic Leukemia Carrying Genetic Polymorphisms Related To Folate Homeostasis

Adults With Sotos Syndrome: Review Of 21 Adults With Molecularly Confirmed Nsd1 Alterations, Including A Detailed Case Report Of The Oldest Person

Methotrexate-Induced Subacute Neurotoxicity In A Child With Acute Lymphoblastic Leukemia Carrying Genetic Polymorphisms Related To Folate Homeostasis

Adults With Sotos Syndrome: Review Of 21 Adults With Molecularly Confirmed Nsd1 Alterations, Including A Detailed Case Report Of The Oldest Person

Idiopathic Focal Epilepsies In Childhood. Diagnostic Difficulties

Adults With Sotos Syndrome: Review Of 21 Adults With Molecularly Confirmed Nsd1 Alterations, Including A Detailed Case Report Of The Oldest Person

Idiopathic Focal Epilepsies In Childhood. Diagnostic Difficulties

First Experience Of Enzyme Replacement Therapy With Idursulfase In Spanish Patients With Hunter Syndrome Under 5 Years Of Age: Case Observations From The Hunter Outcome Survey (Hos)

Idiopathic Focal Epilepsies In Childhood. Diagnostic Difficulties

First Experience Of Enzyme Replacement Therapy With Idursulfase In Spanish Patients With Hunter Syndrome Under 5 Years Of Age: Case Observations From The Hunter Outcome Survey (Hos)

Esophageal Atresia In The Goldenhar Syndrome

First Experience Of Enzyme Replacement Therapy With Idursulfase In Spanish Patients With Hunter Syndrome Under 5 Years Of Age: Case Observations From The Hunter Outcome Survey (Hos)

Esophageal Atresia In The Goldenhar Syndrome

Digestive Malformations And Their Associations To Syndrome Condition And Genetic Defects

Esophageal Atresia In The Goldenhar Syndrome

Digestive Malformations And Their Associations To Syndrome Condition And Genetic Defects

Trastornos Del Aprendizaje No Verbal:: Estudio Clínico Y Tratamiento Farmacológico

Digestive Malformations And Their Associations To Syndrome Condition And Genetic Defects

Trastornos Del Aprendizaje No Verbal:: Estudio Clínico Y Tratamiento Farmacológico

Cromosomopatías Por Microdeleción: Fenotipos Principales

Trastornos Del Aprendizaje No Verbal:: Estudio Clínico Y Tratamiento Farmacológico

Cromosomopatías Por Microdeleción: Fenotipos Principales

Mutation Update Of Spinal Muscular Atrophy In Spain: Molecular Characterization Of 745 Unrelated Patients And Identification Of Four Novel Mutations In The Smn1 Gene

Cromosomopatías Por Microdeleción: Fenotipos Principales

Mutation Update Of Spinal Muscular Atrophy In Spain: Molecular Characterization Of 745 Unrelated Patients And Identification Of Four Novel Mutations In The Smn1 Gene

Hirschsprung's Disease: Epidemiology, Classification And Associated Congenital Defects

Mutation Update Of Spinal Muscular Atrophy In Spain: Molecular Characterization Of 745 Unrelated Patients And Identification Of Four Novel Mutations In The Smn1 Gene

Hirschsprung's Disease: Epidemiology, Classification And Associated Congenital Defects

Genetics And Hirschsprung's Disease

Hirschsprung's Disease: Epidemiology, Classification And Associated Congenital Defects

Genetics And Hirschsprung's Disease

Non-Verbal Learning Disorders: A Clinical Study And Pharmacological Treatment

Genetics And Hirschsprung's Disease

Non-Verbal Learning Disorders: A Clinical Study And Pharmacological Treatment

Postprandial Triacylglycerol Metabolism Is Modified By The Presence Of Genetic Variation At The Perilipin (Plin) Locus In 2 White Populations

Non-Verbal Learning Disorders: A Clinical Study And Pharmacological Treatment

Postprandial Triacylglycerol Metabolism Is Modified By The Presence Of Genetic Variation At The Perilipin (Plin) Locus In 2 White Populations

Decreased Corneal Opacity And Improved Vision In A Patient With Mucopolysaccharidosis I (Hurler-Scheie) Treated With Enzyme Replacement Therapy (Laronidase, Aldurazyme®)

Postprandial Triacylglycerol Metabolism Is Modified By The Presence Of Genetic Variation At The Perilipin (Plin) Locus In 2 White Populations

Decreased Corneal Opacity And Improved Vision In A Patient With Mucopolysaccharidosis I (Hurler-Scheie) Treated With Enzyme Replacement Therapy (Laronidase, Aldurazyme®)

Analysis Of The Frequencies Of Genotype Combinations Of 4 Polymorphisms Of Genes Acting On The Folate Cycle In The Spanish Population

Decreased Corneal Opacity And Improved Vision In A Patient With Mucopolysaccharidosis I (Hurler-Scheie) Treated With Enzyme Replacement Therapy (Laronidase, Aldurazyme®)

Analysis Of The Frequencies Of Genotype Combinations Of 4 Polymorphisms Of Genes Acting On The Folate Cycle In The Spanish Population

Phaeochromocytoma Associated With A Paraganglion Syndrome

Analysis Of The Frequencies Of Genotype Combinations Of 4 Polymorphisms Of Genes Acting On The Folate Cycle In The Spanish Population

Phaeochromocytoma Associated With A Paraganglion Syndrome

Early Response To Idursulfase Treatment In A 3 Year-Old Boy Affected Of Hunter Syndrome

Phaeochromocytoma Associated With A Paraganglion Syndrome

Early Response To Idursulfase Treatment In A 3 Year-Old Boy Affected Of Hunter Syndrome

Unrelated Chromosomal Anomalies Found In Patients With Suspected 22q11.2 Deletion

Early Response To Idursulfase Treatment In A 3 Year-Old Boy Affected Of Hunter Syndrome

Unrelated Chromosomal Anomalies Found In Patients With Suspected 22q11.2 Deletion

Array-Cgh In Patients With Kabuki-Like Phenotype: Identification Of Two Patients With Complex Rearrangements Including 2q37 Deletions And No Other Recurrent Aberration

Unrelated Chromosomal Anomalies Found In Patients With Suspected 22q11.2 Deletion

Array-Cgh In Patients With Kabuki-Like Phenotype: Identification Of Two Patients With Complex Rearrangements Including 2q37 Deletions And No Other Recurrent Aberration

Does Single Umbilical Artery (Sua) Predict Any Type Of Congenital Defect? Clinical-Epidemiological Analysis Of A Large Consecutive Series Of Malformed Infants

Array-Cgh In Patients With Kabuki-Like Phenotype: Identification Of Two Patients With Complex Rearrangements Including 2q37 Deletions And No Other Recurrent Aberration

Does Single Umbilical Artery (Sua) Predict Any Type Of Congenital Defect? Clinical-Epidemiological Analysis Of A Large Consecutive Series Of Malformed Infants

Epidemiological Association Between Isolated Skin Marks In Newborn Infants And Single Umbilical Artery (Sua). Does It Have Biological Plausibility?

Does Single Umbilical Artery (Sua) Predict Any Type Of Congenital Defect? Clinical-Epidemiological Analysis Of A Large Consecutive Series Of Malformed Infants

Epidemiological Association Between Isolated Skin Marks In Newborn Infants And Single Umbilical Artery (Sua). Does It Have Biological Plausibility?

Folic Acid Dose In The Prevention Of Congenital Defects

Epidemiological Association Between Isolated Skin Marks In Newborn Infants And Single Umbilical Artery (Sua). Does It Have Biological Plausibility?

Folic Acid Dose In The Prevention Of Congenital Defects

Molecular Characterisation Of A Mosaicism With A Complex Chromosome Rearrangement: Evidence For Coincident Chromosome Healing By Telomere Capture And Neo-Telomere Formation

Folic Acid Dose In The Prevention Of Congenital Defects

Molecular Characterisation Of A Mosaicism With A Complex Chromosome Rearrangement: Evidence For Coincident Chromosome Healing By Telomere Capture And Neo-Telomere Formation

Intrauterine Growth Retardation, Duodenal And Extrahepatic Biliary Atresia, Hypoplastic Pancreas And Other Intestinal Anomalies: Further Evidence Of The Martínez-Frías Syndrome

Molecular Characterisation Of A Mosaicism With A Complex Chromosome Rearrangement: Evidence For Coincident Chromosome Healing By Telomere Capture And Neo-Telomere Formation

Intrauterine Growth Retardation, Duodenal And Extrahepatic Biliary Atresia, Hypoplastic Pancreas And Other Intestinal Anomalies: Further Evidence Of The Martínez-Frías Syndrome

Trends In The Frequency Of Down Syndrome In The Infants Of Young Mothers In The Autonomous Communities Of Spain

Intrauterine Growth Retardation, Duodenal And Extrahepatic Biliary Atresia, Hypoplastic Pancreas And Other Intestinal Anomalies: Further Evidence Of The Martínez-Frías Syndrome

Trends In The Frequency Of Down Syndrome In The Infants Of Young Mothers In The Autonomous Communities Of Spain

First Report Of A Patient With A Mixoploidy 47,xxx / 94,xxxxxx

Trends In The Frequency Of Down Syndrome In The Infants Of Young Mothers In The Autonomous Communities Of Spain

First Report Of A Patient With A Mixoploidy 47,xxx / 94,xxxxxx

Early Mitochondrial Dysfunction In An Infant With Alexander Disease

First Report Of A Patient With A Mixoploidy 47,xxx / 94,xxxxxx

Early Mitochondrial Dysfunction In An Infant With Alexander Disease

Antenatal Exposure To Corticosteroids For Fetal Lung Maturation And Its Repercussion On Weight, Length And Head Circumference In The Newborn Infant

Early Mitochondrial Dysfunction In An Infant With Alexander Disease

Antenatal Exposure To Corticosteroids For Fetal Lung Maturation And Its Repercussion On Weight, Length And Head Circumference In The Newborn Infant

Maternal Polymorphisms 677c-T And 1298a-C Of Mthfr, And 66a-G Mtrr Geness: Is There Any Relationship Between Polymorphisms Of The Folate Pathway, Maternal Homocysteine Levels, And The Risk For Having A Child With Down Syndrome?

Antenatal Exposure To Corticosteroids For Fetal Lung Maturation And Its Repercussion On Weight, Length And Head Circumference In The Newborn Infant

Maternal Polymorphisms 677c-T And 1298a-C Of Mthfr, And 66a-G Mtrr Geness: Is There Any Relationship Between Polymorphisms Of The Folate Pathway, Maternal Homocysteine Levels, And The Risk For Having A Child With Down Syndrome?

Familial Adenomatous Polyposis: Gardner's Syndrome

Maternal Polymorphisms 677c-T And 1298a-C Of Mthfr, And 66a-G Mtrr Geness: Is There Any Relationship Between Polymorphisms Of The Folate Pathway, Maternal Homocysteine Levels, And The Risk For Having A Child With Down Syndrome?

Familial Adenomatous Polyposis: Gardner's Syndrome

New Findings In Craniofacial Dyssynostosis [4]

Familial Adenomatous Polyposis: Gardner's Syndrome

New Findings In Craniofacial Dyssynostosis [4]

Beckwith-Wiedemann Syndrome Due To 11p15.5 Paternal Duplication Associated With Klinefelter Syndrome And A De Novo Pericentric Inversion Of Chromosome Y

New Findings In Craniofacial Dyssynostosis [4]

Beckwith-Wiedemann Syndrome Due To 11p15.5 Paternal Duplication Associated With Klinefelter Syndrome And A De Novo Pericentric Inversion Of Chromosome Y

Let's Talk About Genetic Counseling

Beckwith-Wiedemann Syndrome Due To 11p15.5 Paternal Duplication Associated With Klinefelter Syndrome And A De Novo Pericentric Inversion Of Chromosome Y

Let's Talk About Genetic Counseling

Craniofacial Dyssynostosis: Description Of The First Four Spanish Cases And Review

Let's Talk About Genetic Counseling

Craniofacial Dyssynostosis: Description Of The First Four Spanish Cases And Review

Diagnosis Of 9p-Syndrome At Birth. A New Case [8]

Craniofacial Dyssynostosis: Description Of The First Four Spanish Cases And Review

Diagnosis Of 9p-Syndrome At Birth. A New Case [8]

De Novo Partial Duplication Of The Distal Segment Of The Long Arm Of Chromosome 5 (Q31→qter). Report Of A New Case

Diagnosis Of 9p-Syndrome At Birth. A New Case [8]

De Novo Partial Duplication Of The Distal Segment Of The Long Arm Of Chromosome 5 (Q31→qter). Report Of A New Case

Holt-Oram Syndrome [4]

De Novo Partial Duplication Of The Distal Segment Of The Long Arm Of Chromosome 5 (Q31→qter). Report Of A New Case

Holt-Oram Syndrome [4]

Frequency Of The Mutation 677c-T Of Methylenetetrahydrofolate Reductase Gene On A Sample Of 652 Spanish Liveborn Infants

Holt-Oram Syndrome [4]

Frequency Of The Mutation 677c-T Of Methylenetetrahydrofolate Reductase Gene On A Sample Of 652 Spanish Liveborn Infants

A Diagnostic Conundrum: Two Siblings With Features Overlapping The Kabuki And Malpuech Syndromes. A New Mca Syndrome?

Frequency Of The Mutation 677c-T Of Methylenetetrahydrofolate Reductase Gene On A Sample Of 652 Spanish Liveborn Infants

A Diagnostic Conundrum: Two Siblings With Features Overlapping The Kabuki And Malpuech Syndromes. A New Mca Syndrome?

Hair With A Double Crown And Dilatation Of Virchow-Robin Spaces: A Proposal For A New Neurocutaneous Association

A Diagnostic Conundrum: Two Siblings With Features Overlapping The Kabuki And Malpuech Syndromes. A New Mca Syndrome?

Hair With A Double Crown And Dilatation Of Virchow-Robin Spaces: A Proposal For A New Neurocutaneous Association

Duplicacion Parcial De Novo Del Segmento Distal Del Brazo Largo Del Cromosoma 5 (Q31→qter)

Hair With A Double Crown And Dilatation Of Virchow-Robin Spaces: A Proposal For A New Neurocutaneous Association

Duplicacion Parcial De Novo Del Segmento Distal Del Brazo Largo Del Cromosoma 5 (Q31→qter)

Severe Venous Thrombosis In An Infant Heterozygous For The G20210a Mutation In The Prothrombin Gene [2]

Duplicacion Parcial De Novo Del Segmento Distal Del Brazo Largo Del Cromosoma 5 (Q31→qter)

Severe Venous Thrombosis In An Infant Heterozygous For The G20210a Mutation In The Prothrombin Gene [2]

Zellweger Syndrome. Reports On Two New Cases

Severe Venous Thrombosis In An Infant Heterozygous For The G20210a Mutation In The Prothrombin Gene [2]

Zellweger Syndrome. Reports On Two New Cases

Valoración De Los Pacientes Con Enfermedades Poco Frecuentes

Zellweger Syndrome. Reports On Two New Cases

Valoración De Los Pacientes Con Enfermedades Poco Frecuentes

La Genética Médica. Pasado, Presente Y Futuro

Valoración De Los Pacientes Con Enfermedades Poco Frecuentes

La Genética Médica. Pasado, Presente Y Futuro

Trisomía 18q Parcial Derivada De Translocación Recíproca 4;18 Materna

La Genética Médica. Pasado, Presente Y Futuro

Trisomía 18q Parcial Derivada De Translocación Recíproca 4;18 Materna

Trisomía 18q Parcial Derivada De Translocación Recíproca 4; 18 Materna

Trisomía 18q Parcial Derivada De Translocación Recíproca 4;18 Materna

Trisomía 18q Parcial Derivada De Translocación Recíproca 4; 18 Materna

Partial Trisomy 18q Due To Maternal Reciprocal Translocation 4;18

Trisomía 18q Parcial Derivada De Translocación Recíproca 4; 18 Materna

Partial Trisomy 18q Due To Maternal Reciprocal Translocation 4;18

Waardenburg Syndrome And Hirshsprung Disease

Partial Trisomy 18q Due To Maternal Reciprocal Translocation 4;18

Waardenburg Syndrome And Hirshsprung Disease

Brachmann-De Lange Syndrome In Our Population: Clinical And Epidemiological Characteristics

Waardenburg Syndrome And Hirshsprung Disease

Brachmann-De Lange Syndrome In Our Population: Clinical And Epidemiological Characteristics

Epidemiological Aspects Of Children Of Women With A Bicornuate Uterus

Brachmann-De Lange Syndrome In Our Population: Clinical And Epidemiological Characteristics

Epidemiological Aspects Of Children Of Women With A Bicornuate Uterus

Síndrome De Waardenburg Y La Enfermedad De Hirschsprung

Epidemiological Aspects Of Children Of Women With A Bicornuate Uterus

Síndrome De Waardenburg Y La Enfermedad De Hirschsprung

Utilización De La Hibridación In Situ (Fish) En Patología Pediatríca

Síndrome De Waardenburg Y La Enfermedad De Hirschsprung

Utilización De La Hibridación In Situ (Fish) En Patología Pediatríca

Tracheoesophageal Anomalies In Oculoauriculovertebral (Goldenhar) Spectrum

Utilización De La Hibridación In Situ (Fish) En Patología Pediatríca

Tracheoesophageal Anomalies In Oculoauriculovertebral (Goldenhar) Spectrum

Peripheral Neuropathy In Ehlers-Danlos Syndrome

Tracheoesophageal Anomalies In Oculoauriculovertebral (Goldenhar) Spectrum

Peripheral Neuropathy In Ehlers-Danlos Syndrome

Clitoromegaly In Neurofibromatosis

Peripheral Neuropathy In Ehlers-Danlos Syndrome

Clitoromegaly In Neurofibromatosis

Kabuki Make-Up (Niikawa-Kuroki) Syndrome In Five Spanish Children

Clitoromegaly In Neurofibromatosis

Kabuki Make-Up (Niikawa-Kuroki) Syndrome In Five Spanish Children

Advances In Genetics And Their Application In Surgical Pathology In Children

Kabuki Make-Up (Niikawa-Kuroki) Syndrome In Five Spanish Children

Advances In Genetics And Their Application In Surgical Pathology In Children

Infantile Spasms In A Patient With 18p Monosomy

Advances In Genetics And Their Application In Surgical Pathology In Children

Infantile Spasms In A Patient With 18p Monosomy

Holoprosencephaly Associated With Caudal Dysgenesis: A Clinical- Epidemiological Analysis

Infantile Spasms In A Patient With 18p Monosomy

Holoprosencephaly Associated With Caudal Dysgenesis: A Clinical- Epidemiological Analysis

Short Rib Polydactily Type I Syndrome. A New Case Report

Holoprosencephaly Associated With Caudal Dysgenesis: A Clinical- Epidemiological Analysis

Short Rib Polydactily Type I Syndrome. A New Case Report

Joubert Syndrome Without Mental Retardation

Short Rib Polydactily Type I Syndrome. A New Case Report

Joubert Syndrome Without Mental Retardation

Cutis Verticis Gyrata In A Newborn Infant

Joubert Syndrome Without Mental Retardation

Cutis Verticis Gyrata In A Newborn Infant

Cutis Verticis Gyrata En Un Recién Nacido

Cutis Verticis Gyrata In A Newborn Infant

Cutis Verticis Gyrata En Un Recién Nacido

Síndrome De Joubert Sin Retraso Mental

Cutis Verticis Gyrata En Un Recién Nacido

Síndrome De Joubert Sin Retraso Mental

Tracheoesophageal Fistula, Gastrointestinal Abnormalities, Hypospadias, And Prenatal Growth Deficiency

Síndrome De Joubert Sin Retraso Mental

Tracheoesophageal Fistula, Gastrointestinal Abnormalities, Hypospadias, And Prenatal Growth Deficiency

Thyroid Papillary Carcinoma

Tracheoesophageal Fistula, Gastrointestinal Abnormalities, Hypospadias, And Prenatal Growth Deficiency

Thyroid Papillary Carcinoma

Carcinoma Papilar Tiroideo

Thyroid Papillary Carcinoma

Carcinoma Papilar Tiroideo

Diagnostic Significance Of Systematic Neonatal Urinary Echography. Therapeutic Implications

Carcinoma Papilar Tiroideo

Diagnostic Significance Of Systematic Neonatal Urinary Echography. Therapeutic Implications

Meckel-Gruber Syndrome. A New Case Report

Diagnostic Significance Of Systematic Neonatal Urinary Echography. Therapeutic Implications

Meckel-Gruber Syndrome. A New Case Report

[Síndrome De La Muerte Súbita Del Lactante]: Situación Actual Del Problema

Meckel-Gruber Syndrome. A New Case Report

[Síndrome De La Muerte Súbita Del Lactante]: Situación Actual Del Problema

Penis Agenesis And Polymalformative Syndrome Associated With Etretinate Maternal Ingestion

[Síndrome De La Muerte Súbita Del Lactante]: Situación Actual Del Problema

Penis Agenesis And Polymalformative Syndrome Associated With Etretinate Maternal Ingestion

Ecological Transformations: Insect-Transmitted Infections Today

Penis Agenesis And Polymalformative Syndrome Associated With Etretinate Maternal Ingestion

Ecological Transformations: Insect-Transmitted Infections Today

Median Cleft Of The Lower Lip Mandible, With Complex Congenital Cardiac Disease

Ecological Transformations: Insect-Transmitted Infections Today

Median Cleft Of The Lower Lip Mandible, With Complex Congenital Cardiac Disease

Nodular Urticaria Pigmentosa Clinically Bullosa

Median Cleft Of The Lower Lip Mandible, With Complex Congenital Cardiac Disease

Nodular Urticaria Pigmentosa Clinically Bullosa

Urticaria Pigmentosa Nodular, Clínicamente Bullosa

Nodular Urticaria Pigmentosa Clinically Bullosa

Urticaria Pigmentosa Nodular, Clínicamente Bullosa

Hendidura Mediana Completa Del Labio Inferior Y Maxilar Inferior Asociada A Cardiopatía Congénita Compleja

Urticaria Pigmentosa Nodular, Clínicamente Bullosa

Hendidura Mediana Completa Del Labio Inferior Y Maxilar Inferior Asociada A Cardiopatía Congénita Compleja

Agenesia De Pene Y Síndrome Polimalformativo Asociado Con Ingestión Materna De Etretinato

Hendidura Mediana Completa Del Labio Inferior Y Maxilar Inferior Asociada A Cardiopatía Congénita Compleja

Agenesia De Pene Y Síndrome Polimalformativo Asociado Con Ingestión Materna De Etretinato

Hydrops Fetalis And Pulmonary Lymphangiectasis Due To Hypoplastic Left Heart Syndrome

Agenesia De Pene Y Síndrome Polimalformativo Asociado Con Ingestión Materna De Etretinato

Hydrops Fetalis And Pulmonary Lymphangiectasis Due To Hypoplastic Left Heart Syndrome

Síndrome Del Corazón Izquierdo Hipoplásico, Debutando Como Hydrops Fetalis Y Lifangiectasia Pulmonar Congénita

Hydrops Fetalis And Pulmonary Lymphangiectasis Due To Hypoplastic Left Heart Syndrome

Síndrome Del Corazón Izquierdo Hipoplásico, Debutando Como Hydrops Fetalis Y Lifangiectasia Pulmonar Congénita

Revisión De La Patología Y El Rendimiento De Nuestra Uci Neonatal

Síndrome Del Corazón Izquierdo Hipoplásico, Debutando Como Hydrops Fetalis Y Lifangiectasia Pulmonar Congénita

Revisión De La Patología Y El Rendimiento De Nuestra Uci Neonatal

Tamaño De La Fontanela En El Recién Nacido Normal. Relación Con Parámetros Antropométricos Y Bioquímicos

Revisión De La Patología Y El Rendimiento De Nuestra Uci Neonatal

Tamaño De La Fontanela En El Recién Nacido Normal. Relación Con Parámetros Antropométricos Y Bioquímicos

Ring Chromosome 18 46,xy,r(18)

Tamaño De La Fontanela En El Recién Nacido Normal. Relación Con Parámetros Antropométricos Y Bioquímicos

Ring Chromosome 18 46,xy,r(18)

Meningitis Caused By Brucella. Apropos Of A Case

Ring Chromosome 18 46,xy,r(18)

Meningitis Caused By Brucella. Apropos Of A Case

Seasonal Influenza Vaccination In Childhood And Adolescence. Consensus Of The Aev, Cav-Aep And Seip