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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia.
Ghosh SG, Breuss MW, Schlachetzki Z, Chai G, Ross D, Stanley V, Sonmez FM, Topaloglu H, Zaki MS, Hosny H, Gad S, Gleeson JG. Ghosh SG, et al. Among authors: hosny h. Eur J Hum Genet. 2021 Jun;29(6):957-964. doi: 10.1038/s41431-021-00832-x. Epub 2021 Apr 6. Eur J Hum Genet. 2021. PMID: 33824466 Free PMC article.
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability.
Scala M, Mojarrad M, Riazuddin S, Brigatti KW, Ammous Z, Cohen JS, Hosny H, Usmani MA, Shahzad M, Riazuddin S, Stanley V, Eslahi A, Person RE, Elbendary HM, Comi AM, Poskitt L, Salpietro V, Genomics QS, Rosenfeld JA, Williams KB, Marafi D, Xia F, Biderman Waberski M, Zaki MS, Gleeson J, Puffenberger E, Houlden H, Maroofian R. Scala M, et al. Among authors: hosny h. Brain. 2020 Apr 1;143(4):e31. doi: 10.1093/brain/awaa070. Brain. 2020. PMID: 32227164 Free PMC article. No abstract available.
GGPS1-associated muscular dystrophy with and without hearing loss.
Kaiyrzhanov R, Perry L, Rocca C, Zaki MS, Hosny H, Araujo Martins Moreno C, Phadke R, Zaharieva I, Camelo Gontijo C, Beetz C, Pini V, Movahedinia M, Zanoteli E, DiTroia S, Vuillaumier-Barrot S, Isapof A, Mehrjardi MYV, Ghasemi N, Sarkozy A, Muntoni F, Whalen S, Vona B, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: hosny h. Ann Clin Transl Neurol. 2022 Sep;9(9):1465-1474. doi: 10.1002/acn3.51633. Epub 2022 Jul 23. Ann Clin Transl Neurol. 2022. PMID: 35869884 Free PMC article.
Successful Late Repair of Truncus Arteriosus: A Single Center Experience.
Elgayar MM, Mostafa MM, Adel M, Hosny H. Elgayar MM, et al. Among authors: hosny h. World J Pediatr Congenit Heart Surg. 2024 Mar 22:21501351241232572. doi: 10.1177/21501351241232572. Online ahead of print. World J Pediatr Congenit Heart Surg. 2024. PMID: 38515378
The characteristics and predictors of mortality in periprosthetic fractures around the knee.
Nasser AAHH, Sidhu M, Prakash R, Mahmood A; PPF Study Collaborative; PPF Study Collaborative; Osman K, Chauhan GS, Nandra R, Dewan V, Davidson J, Al-Azzawi M, Smith C, Gawad M, Palaiologos I, Cuthbert R, Wignadasan W, Banks D, Archer J, Odeh A, Moores T, Tahir M, Brooks M, Biring G, Jordan S, Elahi Z, Shaath M, Veettil M, De C, Handford C, Bansal M, Bawa A, Mattar A, Tandra V, Daadipour A, Taha A, Gangoo S, Srinivasan S, Tarisai M, Budair B, Subbaraman K, Khan F, Gomindes A, Samuel A, Kang N, Kapur K, Mainwaring E, Bridgwater H, Lo A, Ahmed U, Khaleeq T, El-Bakoury A, Rashed R, Hosny H, Yarlagadda R, Keenan J, Hamed A, Riemer B, Qureshi A, Gupta V, Waites M, Bleibleh S, Westacott D, Phillips J, East J, Huntley D, Masud S, Mirza Y, Mishra S, Dunlop D, Khalefa M, Balakumar B, Thibbaiah M, Payton O, Berstock J, Deano K, Sarraf KM, Logishetty K, Lee G, Subbiah-Ponniah H, Shah N, Venkatesan A, Cheseldene-Culley J, Ayathamattam J, Tross S, Randhawa S, Mohammed F, Ali R, Bird J, Khan K, Akhtar MA, Brunt A, Roupakiotis P, Subramanian P, Bua N, Hakimi M, Bitar S, Al Najjar M, Radhakrishnan A, Gamble C, James A, Gilmore C, Dawson D, Sofat R, Antar M, Raghu A, Heaton S, Tawfeek W, Cha… See abstract for full author list ➔ Nasser AAHH, et al. Among authors: hosny h. Bone Joint J. 2024 Feb 1;106-B(2):158-165. doi: 10.1302/0301-620X.106B2.BJJ-2023-0700.R1. Bone Joint J. 2024. PMID: 38425310
100 results