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Deciphering congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD) associated with constitutional CDK13 pathogenic variants - case report and literature review.
Wojciechowska K, Kwaśny M, Pietrzyk A, Lejman M. Wojciechowska K, et al. Among authors: lejman m. Ann Agric Environ Med. 2024 Mar 25;31(1):147-150. doi: 10.26444/aaem/175610. Epub 2023 Dec 7. Ann Agric Environ Med. 2024. PMID: 38549490 Free article. Review.
Polymorphism in IKZF1 gene affects age at onset of childhood acute lymphoblastic leukemia.
Górniak P, Pastorczak A, Zalewska-Szewczyk B, Lejman M, Trelińska J, Chmielewska M, Sokół-Jeżewska A, Kowalczyk J, Szczepanski T, Matysiak M, Kazanowska B, Mlynarski W; Polish Pediatric Leukemia/Lymphoma Study Group. Górniak P, et al. Among authors: lejman m. Leuk Lymphoma. 2014 Sep;55(9):2174-8. doi: 10.3109/10428194.2013.866661. Epub 2014 Apr 2. Leuk Lymphoma. 2014. PMID: 24597983
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
Murcia Pienkowski V, Kucharczyk M, Rydzanicz M, Poszewiecka B, Pachota K, Młynek M, Stawiński P, Pollak A, Kosińska J, Wojciechowska K, Lejman M, Cieślikowska A, Wicher D, Stembalska A, Matuszewska K, Materna-Kiryluk A, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Murcia Pienkowski V, et al. Among authors: lejman m. J Clin Med. 2020 Apr 25;9(5):1245. doi: 10.3390/jcm9051245. J Clin Med. 2020. PMID: 32344861 Free PMC article.
A new family with spastic paraplegia type 51 and novel mutations in AP4E1.
Winkler I, Miotła P, Lejman M, Pietrzyk A, Kacprzak M, Kubiak M, Sobczyńska-Tomaszewska A, Skrzypczak M, Jaszczuk I. Winkler I, et al. Among authors: lejman m. BMC Med Genomics. 2021 May 18;14(1):131. doi: 10.1186/s12920-021-00980-5. BMC Med Genomics. 2021. PMID: 34006278 Free PMC article.
102 results