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Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities.
Biernacka EK, Osadnik T, Bilińska ZT, Krawczyński M, Latos-Bieleńska A, Łaczmańska I, Miszczak-Knecht M, Płoski R, Ponińska JK, Prejbisz A, Rubiś P, Rudnicka A, Szczałuba K, Szczygieł JA, Własienko P, Wołczenko A, Zienciuk-Krajka A, Ziółkowska L, Gil R. Biernacka EK, et al. Among authors: laczmanska i. Kardiol Pol. 2024 May 7. doi: 10.33963/v.phj.100490. Online ahead of print. Kardiol Pol. 2024. PMID: 38712785 Free article. No abstract available.
Copy Number Variations and Schizophrenia.
Szecówka K, Misiak B, Łaczmańska I, Frydecka D, Moustafa AA. Szecówka K, et al. Among authors: laczmanska i. Mol Neurobiol. 2023 Apr;60(4):1854-1864. doi: 10.1007/s12035-022-03185-8. Epub 2022 Dec 29. Mol Neurobiol. 2023. PMID: 36580197 Free PMC article. Review.
Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.
Doraczynska-Kowalik A, Michalowska D, Matkowski R, Czykalko E, Blomka D, Semeniuk M, Abrahamowska M, Janus-Szymanska G, Mlynarczykowska P, Szynglarewicz B, Pawlak I, Maciejczyk A, Laczmanska I. Doraczynska-Kowalik A, et al. Among authors: laczmanska i. Front Genet. 2022 Sep 12;13:941375. doi: 10.3389/fgene.2022.941375. eCollection 2022. Front Genet. 2022. PMID: 36171877 Free PMC article.
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY, Smigiel R, Kuzniewska B, Chmielewska JJ, Kosińska J, Biela M, Biela A, Kościelniak A, Dobosz D, Laczmanska I, Chramiec-Głąbik A, Jeżowski J, Nowak J, Gos M, Rzonca-Niewczas S, Dziembowska M, Ploski R, Glatt S. Lin TY, et al. Among authors: laczmanska i. Hum Mutat. 2022 Dec;43(12):2063-2078. doi: 10.1002/humu.24471. Epub 2022 Oct 2. Hum Mutat. 2022. PMID: 36125428 Free PMC article.
Complex glycerol kinase deficiency - long-term follow-up of two patients.
Wikiera B, Jakubiak A, Łaczmanska I, Noczyńska A, Śmigiel R. Wikiera B, et al. Among authors: laczmanska i. Pediatr Endocrinol Diabetes Metab. 2021;27(3):227-231. doi: 10.5114/pedm.2021.109681. Pediatr Endocrinol Diabetes Metab. 2021. PMID: 34743506 Free PMC article.
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