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Patient demographics and characteristics from an ambispective, observational study of patients with duchenne muscular dystrophy in Saudi Arabia.
AlSaman AS, Al Ghamdi F, Bamaga AK, AlShaikh N, Al Muqbil M, Muthaffar O, Bashiri FA, Ali B, Mulayim A, Heider E, Alshahrani AA, Al Muhaizea MA. AlSaman AS, et al. Among authors: alshaikh n. Front Pediatr. 2022 Sep 30;10:1020059. doi: 10.3389/fped.2022.1020059. eCollection 2022. Front Pediatr. 2022. PMID: 36275069 Free PMC article.
Consensus Statement on the Management of Duchenne Muscular Dystrophy in Saudi Arabia During the Coronavirus Disease 2019 Pandemic.
Bamaga AK, Alghamdi F, Alshaikh N, Altwaijri W, Bashiri FA, Hundallah K, Abukhaled M, Muthaffar OY, Al-Mehmadi S, Jamaly TA, Al-Muhaizea MA, Al-Saman A. Bamaga AK, et al. Among authors: alshaikh n. Front Pediatr. 2021 Feb 17;9:629549. doi: 10.3389/fped.2021.629549. eCollection 2021. Front Pediatr. 2021. PMID: 33681102 Free PMC article.
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: alshaikh n. Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449720 Free PMC article.
35 results