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Abdel-Karim Al-Qudah
Publications - 1
Citations - 142
Abdel-Karim Al-Qudah is an academic researcher. The author has contributed to research in topics: Walker–Warburg syndrome & Genetic heterogeneity. The author has an hindex of 1, co-authored 1 publications receiving 142 citations.
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in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
M. Chiara Manzini,Dimira E. Tambunan,R. Sean Hill,Timothy W. Yu,Thomas M. Maynard,Erin L. Heinzen,Kevin V. Shianna,Christine Stevens,Jennifer N. Partlow,Brenda J. Barry,Jacqueline Rodriguez,Vandana Gupta,Abdel-Karim Al-Qudah,Wafaa Eyaid,Jan M. Friedman,Mustafa A. Salih,Robin D. Clark,Isabella Moroni,Marina Mora,Alan H. Beggs,Stacey Gabriel,Christopher A. Walsh +21 more
TL;DR: In this paper, the authors combined whole-exome sequencing (WES) with homozygosity analysis of consanguineous pedigrees to identify genetic mutations responsible for Walker-Warburg syndrome (WWS), a genetically heterogeneous autosomal-recessive disorder that severely affects the development of the brain, eyes, and muscle.