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Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.
Alzayed NT, Alzuabi AH, Alqusaimi RA, El-Anany EA, Alholle A, Aboelanine AH, Omar S, Alsafi R, Elmonairy AA, Alali FJ, Alahmad A, Alsharhan H, Albash B, Marafi D. Alzayed NT, et al. Among authors: alsharhan h. Neurol Genet. 2024 May 22;10(3):e200156. doi: 10.1212/NXG.0000000000200156. eCollection 2024 Jun. Neurol Genet. 2024. PMID: 38784058 Free PMC article.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, Faqeih E, Al Mutairi F, Alsharhan H, Abdelaty O, Bin-Hasan S, Duan R, Noureldeen MM, Alqattan A, Houlden H, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Almannai M, et al. Among authors: alsharhan h. Clin Genet. 2024 Jun;105(6):620-629. doi: 10.1111/cge.14492. Epub 2024 Feb 14. Clin Genet. 2024. PMID: 38356149
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Aburezq M, Alahmad A, Alsafi R, Al-Tawari A, Ramadan D, Shafik M, Abdelaty O, Makhseed N, Elshafie R, Ayed M, Hayat A, Dashti F, Marafi D, Albash B, Bastaki L, Alsharhan H. Aburezq M, et al. Among authors: alsharhan h. Orphanet J Rare Dis. 2023 Sep 5;18(1):271. doi: 10.1186/s13023-023-02888-y. Orphanet J Rare Dis. 2023. PMID: 37670342 Free PMC article.
Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Alsharhan H, Ahmed AA, Ali NM, Alahmad A, Albash B, Elshafie RM, Alkanderi S, Elkazzaz UM, Cyril PX, Abdelrahman RM, Elmonairy AA, Ibrahim SM, Elfeky YME, Sadik DI, Al-Enezi SD, Salloum AM, Girish Y, Al-Ali M, Ramadan DG, Alsafi R, Al-Rushood M, Bastaki L. Alsharhan H, et al. Int J Neonatal Screen. 2021 Aug 17;7(3):56. doi: 10.3390/ijns7030056. Int J Neonatal Screen. 2021. PMID: 34449519 Free PMC article.
14 results