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Publications by M.C. Janssen

Myopathy in a 20-Year-Old Female Patient With D4st-1 Deficient Ehlers-Danlos Syndrome Due to a Homozygous CHST14 Mutation

American Journal of Medical Genetics, Part A

English

Modelling of DER Schedules Using IEC 61850

English

Related publications

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation

Molecular Biology

English

Perioperative Management of a Patient With Ehlers-Danlos Syndrome

THE JOURNAL OF JAPAN SOCIETY FOR CLINICAL ANESTHESIA

English

Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

American Journal of Human Genetics

English

Multiple Perforation of Small-Intestine Diverticula in a Patient With Ehlers-Danlos Syndrome

Revista Espanola de Enfermedades Digestivas

Gastroenterology

English

Superior Semicircular Canal Dehiscence in a Patient With Ehlers-Danlos Syndrome: A Case Report

English

A Single Base Mutation in COL5A2 Causes Ehlers-Danlos Syndrome Type II.

Journal of Medical Genetics

English

Hypermobile Ehlers Danlos Syndrome

Balkan Medical Journal

English

Case Report: Drug-Induced Leukocytoclastic Vasculitis in a Patient With Classic Ehlers-Danlos Syndrome

English

Ehlers-Danlos Syndrome and Periventricular Nodular Heterotopia in a Spanish Family With a Single FLNA Mutation

Journal of Medical Genetics

English