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Publications by Michiel J.R. van der Wielen

Keratosis Follicularis Spinulosa Decalvans Is Caused by Mutations in MBTPS2

English

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Keratosis Follicularis Spinulosa

English

Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase

American Journal of Human Genetics

English

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

American Journal of Human Genetics

English

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by Mutations in the IFT140 Gene

English

Leukocyte Adhesion Deficiency-Iii Is Caused by Mutations in KINDLIN3 Affecting Integrin Activation

Nature Medicine

Molecular Biology

English

Bietti Crystalline Corneoretinal Dystrophy Is Caused by Mutations in the Novel Gene CYP4V2

American Journal of Human Genetics

English

Disabilities Caused by Unstable Mutations in Costa Rica

Revista de Biologia Tropical

Biological Sciences

English

Increased Metabolic Muscle Fatigue Is Caused by Some but Not All Mitochondrial Mutations

Archives of Neurology

English

Xerocytosis Is Caused by Mutations That Alter the Kinetics of the Mechanosensitive Channel PIEZO1

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English