Publications by authors named "Hadil Alrohaif"

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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Andrea Cortese, Maike F Dohrn, Riccardo Curro, Sara Negri, Petra Lassuthova, Hadil Alrohaif

Brain· October 2025

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Identification of Novel and Rare Gene Variants in Cleft Lip/Palate Patients From Kuwaiti Consanguineous Families by Exome Sequencing.
Lateefa Alkharafi, Suzanne Al-Bustan, Sumaya Alkanderi, Reem M Elshafie, Heba Dannoun, Hadil Alrohaif

Am J Med Genet A· October 2025

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Variants in , a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.
Youn Hee Jee, Julian C Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, Hadil Alrohaif

Genet Med Open· December 2024

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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Andreas Roos, Peter F M van der Ven, Hadil Alrohaif, Heike Kölbel, Lorena Heil

Brain· October 2023

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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East.
Fouad Alghamdi, Asmaa Al-Tawari, Hadil Alrohaif, Walaa Alshuaibi, Hicham Mansour

Front Pediatr· September 2021

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[When all roads lead to Africa…].
J Andoni Urtizberea, Hadil Alrohaif, Sayed A Gouda, Laila Bastaki

Med Sci (Paris)· November 2019

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GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.
Hadil Alrohaif, Oksana Pogoryelova, Abdullah Al-Ajmi, Lulwa A Aljeryan, Nuwayer H Alrashidi

Muscle Nerve· November 2018

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Whole-exome sequencing identifies mutations in in a mild form of Carey-Fineman-Ziter syndrome.
Hadil Alrohaif, Ana Töpf, Teresinha Evangelista, Monkol Lek, Daniel McArthur

Neurol Genet· April 2018

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