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Publications by Omar Abdul-Rahman

BMP4 Loss-Of-Function Mutations in Developmental Eye Disorders Including SHORT Syndrome

English

Characterization of Novel SLC6A8 Variants With the Use of Splice-Site Analysis Tools and Implementation of a Newly Developed LOVD Database

European Journal of Human Genetics

English

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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American Journal of Human Genetics

English

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications

Molecular Biology

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

English

In Vivo Severity Ranking of Ras Pathway Mutations Associated With Developmental Disorders

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

Multidisciplinary

English

TBC1D8B Loss-Of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

American Journal of Human Genetics

English

Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome

Molecular Biology

Biological Sciences

English

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Multidisciplinary

English

Editorial to the Special Issue on “Molecular Genetics of Developmental Eye Disorders”

English

Loss of OATP1B3 Function Causes Rotor Syndrome

Cancer Biology and Therapy

Cancer Research

Molecular Medicine

English