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BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
Bednarek M, Trybus M, Kolanowska M, Koziej M, Kiec-Wilk B, Dobosz A, Kotlarek-Łysakowska M, Kubiak-Dydo A, Użarowska-Gąska E, Staręga-Rosłan J, Gaj P, Górzyńska I, Serwan K, Świerniak M, Kot A, Jażdżewski K, Wójcicka A. Bednarek M, et al. Among authors: uzarowska gaska e. Mol Genet Genomic Med. 2021 Mar;9(3):e1594. doi: 10.1002/mgg3.1594. Epub 2021 Jan 24. Mol Genet Genomic Med. 2021. PMID: 33486847 Free PMC article.
Compound Haplotype Variants in CFH and CD46 Genes Determine Clinical Outcome of Atypical Hemolytic Uremic Syndrome (aHUS)-A Series of Cases from a Single Family.
Furmańczyk-Zawiska A, Kubiak-Dydo A, Użarowska-Gąska E, Kotlarek-Łysakowska M, Salata K, Kolanowska M, Świerniak M, Gaj P, Leszczyńska B, Daniel M, Jażdżewski K, Durlik M, Wójcicka A. Furmańczyk-Zawiska A, et al. Among authors: uzarowska gaska e. J Pers Med. 2021 Apr 15;11(4):304. doi: 10.3390/jpm11040304. J Pers Med. 2021. PMID: 33920896 Free PMC article.