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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014.
Genes (Basel). 2021.
PMID: 34946966
Free PMC article.
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R.
Jakubiak A, et al. Among authors: chilarska t.
J Appl Genet. 2021 Sep;62(3):477-485. doi: 10.1007/s13353-021-00636-1. Epub 2021 May 12.
J Appl Genet. 2021.
PMID: 33982229
Free PMC article.
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The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.
Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM.
Charzewska A, et al. Among authors: chilarska t.
Clin Genet. 2018 Nov;94(5):450-456. doi: 10.1111/cge.13412. Epub 2018 Aug 9.
Clin Genet. 2018.
PMID: 30006928
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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: chilarska t.
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.
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The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.
Kucińska A, Hawuła W, Rutkowska L, Wysocka U, Kępczyński Ł, Piotrowicz M, Chilarska T, Wieczorek-Cichecka N, Połatyńska K, Przysło Ł, Gach A.
Kucińska A, et al. Among authors: chilarska t.
Brain Sci. 2024 Mar 13;14(3):273. doi: 10.3390/brainsci14030273.
Brain Sci. 2024.
PMID: 38539661
Free PMC article.
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