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97 results

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Page 1
Genotype-phenotype correlation in clubfoot (talipes equinovarus).
Hordyjewska-Kowalczyk E, Nowosad K, Jamsheer A, Tylzanowski P. Hordyjewska-Kowalczyk E, et al. Among authors: jamsheer a. J Med Genet. 2022 Mar;59(3):209-219. doi: 10.1136/jmedgenet-2021-108040. Epub 2021 Nov 15. J Med Genet. 2022. PMID: 34782442 Review.
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.
Sałacińska K, Pinkier I, Rutkowska L, Chlebna-Sokół D, Jakubowska-Pietkiewicz E, Michałus I, Kępczyński Ł, Salachna D, Wieczorek-Cichecka N, Piotrowicz M, Chilarska T, Jamsheer A, Matusik P, Wilk M, Petriczko E, Giżewska M, Stecewicz I, Walczak M, Rybak-Krzyszkowska M, Lewiński A, Gach A. Sałacińska K, et al. Among authors: jamsheer a. Front Endocrinol (Lausanne). 2023 Sep 22;14:1149982. doi: 10.3389/fendo.2023.1149982. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37810882 Free PMC article.
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.
Socha M, Szoszkiewicz A, Simon D, Jamsheer A. Socha M, et al. Among authors: jamsheer a. J Appl Genet. 2023 Feb;64(1):125-134. doi: 10.1007/s13353-022-00743-7. Epub 2022 Dec 31. J Appl Genet. 2023. PMID: 36586055 Free PMC article. Review.
Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report.
Meczekalski B, Czyzyk A, Podfigurna-Stopa A, Rydzewski B, Sroczynski J, Lipinska M, Sokalski J, Krawczynski M, Jamsheer A, Katulski K, Genazzani A. Meczekalski B, et al. Among authors: jamsheer a. Gynecol Endocrinol. 2013 May;29(5):511-4. doi: 10.3109/09513590.2012.760196. Epub 2013 Feb 1. Gynecol Endocrinol. 2013. PMID: 23368730 Free article. Review.
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Gottschalk A, Sczakiel HL, Hülsemann W, Schwartzmann S, Abad-Perez AT, Grünhagen J, Ott CE, Spielmann M, Horn D, Mundlos S, Jamsheer A, Mensah MA. Gottschalk A, et al. Among authors: jamsheer a. Genet Med. 2023 Nov;25(11):100928. doi: 10.1016/j.gim.2023.100928. Epub 2023 Jul 7. Genet Med. 2023. PMID: 37427568 Free article. Review.
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Kołbuc M, Kołek MF, Motyka R, Bieniaś B, Habbig S, Burgmaier K, Prikhodina L, Papizh S, Tasic V, Okorn C, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Tkaczyk M, Pańczyk-Tomaszewska M, Miklaszewska M, Pawlaczyk K, Bukowska-Olech E, Jamsheer A, Jankauskiene A, König J, Cheong HI, Ahn YH, Kaspar S, Sikora P, Beck BB, Zaniew M. Kołbuc M, et al. Among authors: jamsheer a. Pediatr Nephrol. 2024 Jun;39(6):1847-1858. doi: 10.1007/s00467-023-06262-9. Epub 2024 Jan 10. Pediatr Nephrol. 2024. PMID: 38196016 Free PMC article. Clinical Trial.
From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.
Matuszewska KE, Bukowska-Olech E, Piechota M, Staniek-Łacna K, Drews K, Więckowska B, Koczyk G, Popiel D, Dawidziuk A, Kochalska N, Milanowska K, Białek-Prościńska A, Skrzypczak J, Hirschfeld AS, Wnuk-Kłosińska A, Wiśniewska M, Jamsheer A, Latos-Bieleńska A. Matuszewska KE, et al. Among authors: jamsheer a. J Matern Fetal Neonatal Med. 2024 Dec;37(1):2364249. doi: 10.1080/14767058.2024.2364249. Epub 2024 Jul 28. J Matern Fetal Neonatal Med. 2024. PMID: 39069503 Free article. Review.
97 results