PUBLICACIÓN

Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome

ACCEDER A LA PUBLICACIÓN: Scopus

2008 European Journal of Medical Genetics

CITAS

10

DOI

10.1016/j.ejmg.2008.02.005

EID

2-s2.0-43049175045

ISSN

1769-7212

AUTORES DE LA UEX

Ana María Grande Tejada
Enrique Galán Gómez
Cristina Cáceres Marzal

OTRAS PUBLICACIONES DE INTERÉS

Tamaño De La Fontanela En El Recién Nacido Normal. Relación Con Parámetros Antropométricos Y Bioquímicos
Antiviral Treatment And Risk Of Hearing Loss In Asymptomatic And Mild Symptomatic Infants With Congenital Cytomegalovirus
Impact Of Current Influenza Vaccination Recommendations In Risk Groups
Antiviral Treatment And Risk Of Hearing Loss In Asymptomatic And Mild Symptomatic Infants With Congenital Cytomegalovirus
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
Vaccination Schedule For Adolescents. Consensus Of The Aev, Cav-Aep And Sema
Expert Consensus For The Management Of Patients With Achondroplasia In Treatment With Vosoritide
Vaccination Schedule For Adolescents. Consensus Of The Aev, Cav-Aep And Sema
Pleural Effusion In A Child With A Correctly Placed Ventricle-Peritoneal Shunt
Vaccination Schedule For Adolescents. Consensus Of The Aev, Cav-Aep And Sema
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
Clinprior: An Algorithm For Diagnosis And Novel Gene Discovery By Network-Based Prioritization
Epidemiology, Prevention And Control Of Pertussis In Spain: New Vaccination Strategies For Lifelong Protection
Clinprior: An Algorithm For Diagnosis And Novel Gene Discovery By Network-Based Prioritization
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
Clinical Genetics And Constipation
Waardenburg Syndrome Type 4: Report Of Two New Cases Caused By Sox10 Mutations In Spain
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
Penis Agenesis And Polymalformative Syndrome Associated With Etretinate Maternal Ingestion
Meckel-Gruber Syndrome. A New Case Report
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
Ring Chromosome 18 46,xy,r(18)
Revisión De La Patología Y El Rendimiento De Nuestra Uci Neonatal
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
Tamaño De La Fontanela En El Recién Nacido Normal. Relación Con Parámetros Antropométricos Y Bioquímicos
Meningitis Caused By Brucella. Apropos Of A Case
Tamaño De La Fontanela En El Recién Nacido Normal. Relación Con Parámetros Antropométricos Y Bioquímicos
Antiviral Treatment And Risk Of Hearing Loss In Asymptomatic And Mild Symptomatic Infants With Congenital Cytomegalovirus
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