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Publications by Volker Schuster

Phenotypic Variability in a Family With Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of PKA Phosphorylation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Related publications

Heterozygous Versus Homozygous Phenotype Caused by the Same Mc4r Mutation: Novel Mutation Affecting a Large Consanguineous Kindred

BMC Medical Genetics

English

Phenotypic Variability in a Family With Townes–Brocks Syndrome

Journal of Human Genetics

English

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation

Annals of Otology, Rhinology and Laryngology

Otorhinolaryngology

English

Marked Intrafamilial Phenotypic Variation in a Family With SOD1 C111Y Mutation

Amyotrophic Lateral Sclerosis

English

A Novel Dominant Mutation in the SOX10 Gene in a Chinese Family With Waardenburg Syndrome Type�II

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V

Frontiers in Neurology

English

X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

Scientific Reports

Multidisciplinary

English

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

Clinical Pediatric Endocrinology

English