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Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.
Habeb AM, Deeb A, Johnson M, Abdullah M, Abdulrasoul M, Al-Awneh H, Al-Maghamsi MS, Al-Murshedi F, Al-Saif R, Al-Sinani S, Ramadan D, Tfayli H, Flanagan SE, Ellard S. Habeb AM, et al. Horm Res Paediatr. 2015;83(3):190-7. doi: 10.1159/000369804. Epub 2015 Feb 5. Horm Res Paediatr. 2015. PMID: 25659842 Free PMC article. Clinical Trial.
Expanding the genetic heterogeneity of intellectual disability.
Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Anazi S, et al. Hum Genet. 2017 Nov;136(11-12):1419-1429. doi: 10.1007/s00439-017-1843-2. Epub 2017 Sep 22. Hum Genet. 2017. PMID: 28940097 Free article.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL. Tábara LC, et al. Brain. 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. Brain. 2022. PMID: 35718349 Free PMC article.
Congenital Hyperinsulinism and Maple Syrup Urine Disease: A Challenging Combination.
Al Shidhani A, Al Hinai A, Al Thihli K, Al Mandhari H, Al Yaarubi S, Ullah I, Al-Hashmi N, Al Murshedi F. Al Shidhani A, et al. J Clin Res Pediatr Endocrinol. 2023 Aug 23;15(3):302-306. doi: 10.4274/jcrpe.galenos.2021.2021.0173. Epub 2021 Nov 5. J Clin Res Pediatr Endocrinol. 2023. PMID: 34738771 Free PMC article.
49 results