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Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152.
Brain. 2023.
PMID: 37163662
Free PMC article.
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.
Alrohaif H, Töpf A, Evangelista T, Lek M, McArthur D, Lochmüller H.
Alrohaif H, et al.
Neurol Genet. 2018 Mar 19;4(2):e226. doi: 10.1212/NXG.0000000000000226. eCollection 2018 Apr.
Neurol Genet. 2018.
PMID: 29560417
Free PMC article.
No abstract available.
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GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.
Alrohaif H, Pogoryelova O, Al-Ajmi A, Aljeryan LA, Alrashidi NH, Alefasi SA, Urtizberea A, Lochmüller H, Bastaki L.
Alrohaif H, et al.
Muscle Nerve. 2018 Nov;58(5):700-707. doi: 10.1002/mus.26337. Epub 2018 Oct 3.
Muscle Nerve. 2018.
PMID: 30192030
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[When all roads lead to Africa…].
Urtizberea JA, Alrohaif H, Gouda SA, Bastaki L.
Urtizberea JA, et al. Among authors: alrohaif h.
Med Sci (Paris). 2019 Nov;35 Hors série n° 2:15-17. doi: 10.1051/medsci/2019237. Epub 2019 Dec 20.
Med Sci (Paris). 2019.
PMID: 31859625
Free article.
French.
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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East.
Alghamdi F, Al-Tawari A, Alrohaif H, Alshuaibi W, Mansour H, Aartsma-Rus A, Mégarbané A.
Alghamdi F, et al. Among authors: alrohaif h.
Front Pediatr. 2021 Sep 13;9:716424. doi: 10.3389/fped.2021.716424. eCollection 2021.
Front Pediatr. 2021.
PMID: 34595143
Free PMC article.
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