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Page 1
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, Herget T, Hempel M, Kortüm F, Heron D, Mignot C, Keren B, Brooks S, Botti C, Ben-Zeev B, Argilli E, Sherr EH, Gowda VK, Srinivasan VM, Bakhtiari S, Kruer MC, Salih MA, Kuechler A, Muller EA, Blocker K, Kuismin O, Park KL, Kochhar A, Brown K, Ramanathan S, Clark RD, Elgizouli M, Melikishvili G, Tabatadze N, Stark Z, Mirzaa GM, Ong J, Grasshoff U, Bevot A, von Wintzingerode L, Jamra RA, Hennig Y, Goldenberg P, Al Alam C, Charif M, Boulouiz R, Bellaoui M, Amrani R, Al Mutairi F, Tamim AM, Abdulwahab F, Alkuraya FS, Khouj EM, Alvi JR, Sultan T, Hashemi N, Karimiani EG, Ashrafzadeh F, Imannezhad S, Efthymiou S, Houlden H, Sticht H, Zweier C. Langhammer F, et al. Among authors: blocker k. Genet Med. 2023 Aug;25(8):100885. doi: 10.1016/j.gim.2023.100885. Epub 2023 May 8. Genet Med. 2023. PMID: 37165955
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B; Care4Rare Canada Consortium; Undiagnosed Diseases Network; Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J. Mullegama SV, et al. Among authors: blocker k. Am J Hum Genet. 2024 Apr 4;111(4):778-790. doi: 10.1016/j.ajhg.2024.02.016. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531365
Characteristics, Treatment Patterns, and Clinical Outcomes After Heart Failure Hospitalizations During the COVID-19 Pandemic, March to October 2020.
Yousufuddin M, Yamani MH, Kashani KB, Zhu Y, Wang Z, Seshadri A, Blocker KR, Peters JL, Doss JM, Karam D, Khandelwal K, Sharma UM, Dudenkov DV, Mehmood T, Pagali SR, Nanda S, Abdalrhim AD, Cummings N, Dugani SB, Smerina M, Prokop LJ, Keenan LR, Bhagra S, Jahangir A, Bauer PR, Fonarow GC, Murad MH. Yousufuddin M, et al. Among authors: blocker kr. Mayo Clin Proc. 2023 Jan;98(1):31-47. doi: 10.1016/j.mayocp.2022.09.005. Epub 2022 Sep 21. Mayo Clin Proc. 2023. PMID: 36603956 Free PMC article.
14 results