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Publications by Saskia A.J. Lesnik Oberstein

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

American Journal of Human Genetics

English

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Peters Plus Syndrome Mutations Disrupt a Noncanonical ER Quality-Control Mechanism

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Peters Plus Syndrome: A Recognizable Clinical Entity

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A Putative Monofunctional Glycosyltransferase Is Expressed in Ralstonia Eutropha.

Journal of Bacteriology

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Prenatal Detection of Peters Plus-Like Syndrome

Turk Jinekoloji ve Obstetrik Dernegi Dergisi

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

American Journal of Human Genetics

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

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Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

American Journal of Human Genetics

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Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy With Deafness, Is Caused by Mutations in C20orf54

American Journal of Human Genetics

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Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations

Movement Disorders Clinical Practice

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