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Publications by C. Windpassinger

177 VPS33B Mutations Cause ARKID Syndrome Affecting Rab Protein Interaction, Collagen Modification and Epidermal Structure

Journal of Investigative Dermatology

Molecular Biology

English

Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

Neuropediatrics

English

Related publications

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics

English

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

American Journal of Human Genetics

English

Classical and Neonatal Marfan Syndrome Mutations in Fibrillin-1 Cause Differential Protease Susceptibilities and Protein Function

Journal of Biological Chemistry

Molecular Biology

English

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

American Journal of Human Genetics

English

Barth Syndrome Mutations That Cause Tafazzin Complex Lability

Journal of Cell Biology

English

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

American Journal of Human Genetics

English

Mutations Affecting the Structure and Function of Immunoglobulin M.

Molecular and Cellular Biology

Molecular Biology

English

Reply to Mazzeu: Human Mutations inRYKMight Cause Robinow Syndrome

Journal of Biological Chemistry

Molecular Biology

English

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American Journal of Human Genetics

English