PUBLICACIÓN

Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain

ACCEDER A LA PUBLICACIÓN: Scopus

Fernandez R.M.; Nunez-Ramos R.; Enguix-Riego M.V.; Roman-Rodriguez F.J.; Galan-Gomez E.; Blesa-Sanchez E.; Antinolo G.; Nunez-Nunez R.; Borrego S.

2014 American Journal of Medical Genetics, Part A

Genetics (Q2), Genetics (clinical) (Q2)

JCR: 2.159

SJR: 1.278

CITAS

19

DOI

10.1002/ajmg.a.36302

EID

2-s2.0-84892868242

ISSN

1552-4825

EISSN

1552-4833

AUTORES DE LA UEX

Enrique Galán Gómez

OTRAS PUBLICACIONES DE INTERÉS

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Expert Consensus For The Management Of Patients With Achondroplasia In Treatment With Vosoritide
Variability In Phelan-Mcdermid Syndrome In A Cohort Of 210 Individuals
Expert Consensus For The Management Of Patients With Achondroplasia In Treatment With Vosoritide
Variability In Phelan-Mcdermid Syndrome In A Cohort Of 210 Individuals
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)
Variability In Phelan-Mcdermid Syndrome In A Cohort Of 210 Individuals
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
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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
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The Effect Of Copy Number Variations In Chromosome 16p On Body Weight In Patients With Intellectual Disability
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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
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Antenatal Exposure To Corticosteroids For Fetal Lung Maturation And Its Repercussion On Weight, Length And Head Circumference In The Newborn Infant
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Antenatal Exposure To Corticosteroids For Fetal Lung Maturation And Its Repercussion On Weight, Length And Head Circumference In The Newborn Infant
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Familial Adenomatous Polyposis: Gardner's Syndrome
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Let's Talk About Genetic Counseling
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Duplicacion Parcial De Novo Del Segmento Distal Del Brazo Largo Del Cromosoma 5 (Q31→qter)
A Diagnostic Conundrum: Two Siblings With Features Overlapping The Kabuki And Malpuech Syndromes. A New Mca Syndrome?
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]
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Waardenburg Syndrome And Hirshsprung Disease
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Cutis Verticis Gyrata In A Newborn Infant
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Cutis Verticis Gyrata En Un Recién Nacido
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Carcinoma Papilar Tiroideo
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[Síndrome De La Muerte Súbita Del Lactante]: Situación Actual Del Problema
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[Síndrome De La Muerte Súbita Del Lactante]: Situación Actual Del Problema
Penis Agenesis And Polymalformative Syndrome Associated With Etretinate Maternal Ingestion
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Urticaria Pigmentosa Nodular, Clínicamente Bullosa
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Agenesia De Pene Y Síndrome Polimalformativo Asociado Con Ingestión Materna De Etretinato
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Síndrome Del Corazón Izquierdo Hipoplásico, Debutando Como Hydrops Fetalis Y Lifangiectasia Pulmonar Congénita
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Ring Chromosome 18 46,xy,r(18)
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Ring Chromosome 18 46,xy,r(18)
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Ring Chromosome 18 46,xy,r(18)
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