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Norah S. Alsaleh
Norah S. Alsaleh
Microcephaly
Exome sequencing
Spliceosome
RING Finger Protein
Genetics
2
Papers
1
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0
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Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course
2021
Reza Maroofian
Andrea Gubas
Rauan Kaiyrzhanov
Marcello Scala
Khalid Hundallah
Mariasavina Severino
Mohamed Abdelhamid
Jill A. Rosenfeld
Darius Ebrahimi-Fakhari
Zahir Ali
Fazal Rahim
Henry Houlden
Sharon A. Tooze
Norah S. Alsaleh
Maha S. Zaki
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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy
2019
American Journal of Medical Genetics Part A
Bryce A. Mendelsohn
Daniah Beleford
Aya Abu‐El‐Haija
Norah S. Alsaleh
Zuhair Rahbeeni
Pierre‐Marie Martin
Shannon Rego
Alyssa Huang
Gina Capodanno
Joseph T.C. Shieh
Jessica Van Ziffle
Neil Risch
Fowzan S. Alkuraya
Anne Slavotinek
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