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26 results

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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: sekula a. 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 Free PMC article.
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, Juusola J, Yang J. Mullegama SV, et al. Among authors: sekula a. Am J Hum Genet. 2024 Jun 6;111(6):1240. doi: 10.1016/j.ajhg.2024.05.004. Epub 2024 May 14. Am J Hum Genet. 2024. PMID: 38749428 Free PMC article. No abstract available.
Subjective and Objective Assessments of Post-traumatic Olfactory Dysfunction.
Limphaibool N, Iwanowski P, Kozubski W, Swidziński T, Frankowska A, Kamińska I, Linkowska-Swidzińska K, Sekula A, Swidziński P, Maciejewska-Szaniec Z, Maciejewska B. Limphaibool N, et al. Among authors: sekula a. Front Neurol. 2020 Aug 26;11:970. doi: 10.3389/fneur.2020.00970. eCollection 2020. Front Neurol. 2020. PMID: 32982956 Free PMC article.
Quality of life and hearing after cochlear implant placement in patients over 60 years of age.
Czerniejewska-Wolska H, Kałos M, Sekula A, Piszczatowski B, Rutkowska J, Rogowski M, Zadrożniak M, Szymański M, Klatka J, Durko M, Pietruszewska W, Gawłowska MB, Kuśmierczyk J, Kruk-Krzemień A, Wiskirska-Woźnica B. Czerniejewska-Wolska H, et al. Among authors: sekula a. Otolaryngol Pol. 2015;69(4):34-9. doi: 10.5604/00306657.1163575. Otolaryngol Pol. 2015. PMID: 26388358
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