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Publications by J P H Drenth

Hyperimmunoglobulinaemia D Syndrome in India: Report of Two Siblings With a Novel Mutation

Annals of the Rheumatic Diseases

Molecular Biology

English

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Usher Syndrome in Two Siblings, a Case Report

International Journal of Retina

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A Novel Mutation of Laminin Β2 (LAMB2) in Two Siblings With Renal Failure

European Journal of Pediatrics

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Wolfram Syndrome: Case Report of Two Siblings With Genetic Analysis

Pediatric Review: International Journal of Pediatric Research

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Axenfeld Rieger Syndrome: A Rare Case Report of Two Siblings

Journal of Evolution of Medical and Dental sciences

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Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene

Clinical Pediatric Endocrinology

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Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Movement Disorders Clinical Practice

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IPEX Syndrome in Siblings With a Novel Variant in FOXP3

Journal of Allergy and Clinical Immunology

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A Novel Nonsense Mutation of ERCC2 in a Vietnamese Family With Xeroderma Pigmentosum Syndrome Group D

Human Genome Variation

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Novel Cardiovascular Findings in Association With a POMT2 Mutation: Three Siblings With Α-Dystroglycanopathy

European Journal of Human Genetics

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