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New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Gach A, Pinkier I, Wysocka U, Sałacińska K, Salachna D, Szarras-Czapnik M, Pietrzyk A, Sakowicz A, Nykel A, Rutkowska L, Rybak-Krzyszkowska M, Socha M, Jamsheer A, Jakubowski L. Gach A, et al. Among authors: jamsheer a. Arch Med Sci. 2020 Sep 18;18(2):353-364. doi: 10.5114/aoms.2020.98909. eCollection 2022. Arch Med Sci. 2020. PMID: 35316923 Free PMC article.
Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR. Courage C, et al. Among authors: jamsheer a. Am J Med Genet A. 2019 Dec;179(12):2447-2453. doi: 10.1002/ajmg.a.61354. Epub 2019 Sep 11. Am J Med Genet A. 2019. PMID: 31512363
Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.
Sałacińska K, Pinkier I, Rutkowska L, Chlebna-Sokół D, Jakubowska-Pietkiewicz E, Michałus I, Kępczyński Ł, Salachna D, Jamsheer A, Bukowska-Olech E, Jaszczuk I, Jakubowski L, Gach A. Sałacińska K, et al. Among authors: jamsheer a. Front Genet. 2021 Jul 9;12:692978. doi: 10.3389/fgene.2021.692978. eCollection 2021. Front Genet. 2021. PMID: 34306033 Free PMC article.
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.
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
Budny B, Zemojtel T, Kaluzna M, Gut P, Niedziela M, Obara-Moszynska M, Rabska-Pietrzak B, Karmelita-Katulska K, Stajgis M, Ambroziak U, Bednarczuk T, Wrotkowska E, Bukowska-Olech E, Jamsheer A, Ruchala M, Ziemnicka K. Budny B, et al. Among authors: jamsheer a. Front Endocrinol (Lausanne). 2020 Jun 16;11:368. doi: 10.3389/fendo.2020.00368. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32612575 Free PMC article.
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.
Bukowska-Olech E, Materna-Kiryluk A, Walczak-Sztulpa J, Popiel D, Badura-Stronka M, Koczyk G, Dawidziuk A, Jamsheer A. Bukowska-Olech E, et al. Among authors: jamsheer a. Front Genet. 2020 Nov 11;11:580477. doi: 10.3389/fgene.2020.580477. eCollection 2020. Front Genet. 2020. PMID: 33262786 Free PMC article.
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
Wawrocka A, Walczak-Sztulpa J, Socha M, Kuszel L, Sowinska-Seidler A, Budny B, Bukowska-Olech E, Pilas-Pomykalska M, Jamsheer A, Krawczynski MR. Wawrocka A, et al. Among authors: jamsheer a. Am J Med Genet A. 2022 Feb;188(2):642-647. doi: 10.1002/ajmg.a.62559. Epub 2021 Nov 12. Am J Med Genet A. 2022. PMID: 34773354
97 results