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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.
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.
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.
Vitamin D prophylaxis in persons with epilepsy?
Sourbron J, Auvin S, Cabral-Lim L, Devlin A, Dluglos D, Hosny H, Marson T, Meador KJ, Patel AA, Penell PB, Riney K, Trinka E, Wiebe S, Lagae L. Sourbron J, et al. Among authors: hosny h. Epilepsia. 2024 Sep;65(9):2567-2579. doi: 10.1111/epi.18046. Epub 2024 Jun 22. Epilepsia. 2024. PMID: 39494692 Review.
Consensus Guideline on the Management of Epilepsy in Egypt: A National Delphi Consensus Study.
Kishk N, Hosny H, Badry R, Elmenshawi I, Hamdy MM, Shaker E, Shehata HS, Magdy R, Ramzy GM, Hemeda M, Gaber A, Abdelhamed M, Abohagar A, Yassine IA, Abbas M, Shaheen HA, Abdel Moety M, Metwally HMH, Saeed MA, Essmat A, Abdou A, Soliman RH, Oraby MI, Morad AE, Kasem SM, Aidaros M, El Heneedy Y, ElNemr A, Elkady A, Amin R, Abdel Ghany WA, Morsy AA, Hamdi H, Shamloul R. Kishk N, et al. Among authors: hosny h. Epilepsia Open. 2024 Aug;9(4):1233-1251. doi: 10.1002/epi4.12922. Epub 2024 May 24. Epilepsia Open. 2024. PMID: 38790148 Free PMC article.
106 results