Ayman W El-Hattab
30PUBLICATIONS
66CO-AUTHORS
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Publications (30)
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|Jun 10, 2025
Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.David Gong, Jennifer L Orthmann-Murphy, Deepak Kumar
|Mar 04, 2024
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.Tamam Khalaf, Mode Al Ojaimi, Dina Amin Saleh
|Feb 15, 2024
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.Mohammed Almannai, Dana Marafi, Maha S Zaki
|Dec 23, 2023
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.Ralf A Husain, Xinfu Jiao, J Christopher Hennings
|Oct 14, 2023
Perinatal Outcomes in Foetuses with Increased Nuchal Translucency and Normal Karyotype: A Retrospective Cohort Study from the United Arab Emirates.Howaida Khair, Serene Hilary, Shamsa Al Awar
|Oct 09, 2023
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.Michael J Xie, Gareth A Cromie, Katherine Owens
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Frequent Collaborators
6 joint publications
Jehan Suleiman
3 joint publications
Fowzan S Alkuraya
3 joint publications
Korbinian M Riedhammer
2 joint publications
Mode Al Ojaimi
2 joint publications
Rami A Ballout
2 joint publications
Christian Beetz
2 joint publications
Maha S Zaki
2 joint publications
Jennifer L Orthmann-Murphy
2 joint publications
Nicoline Schiess
1 joint publications
Samantha A Schrier Vergano
