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Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.
Appl Clin Genet. 2022 May 14;15:27-38. doi: 10.2147/TACG.S357136. eCollection 2022.
Appl Clin Genet. 2022.
PMID: 35603035
Free PMC article.
Prenatal identification of partial 3q duplication syndrome.
Pasińska M, Adamczak R, Repczyńska A, Łazarczyk E, Iskra B, Runge AK, Haus O.
Pasińska M, et al. Among authors: repczynska a.
BMC Med Genomics. 2019 Jun 13;12(1):85. doi: 10.1186/s12920-019-0547-y.
BMC Med Genomics. 2019.
PMID: 31196198
Free PMC article.
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Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report.
Repczynska A, Pastorczak A, Babol-Pokora K, Skalska-Sadowska J, Drozniewska M, Mlynarski W, Haus O.
Repczynska A, et al.
Mol Cytogenet. 2020 Aug 10;13:33. doi: 10.1186/s13039-020-00503-4. eCollection 2020.
Mol Cytogenet. 2020.
PMID: 32793304
Free PMC article.
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Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia.
Repczynska A, Julga K, Skalska-Sadowska J, Kacprzak MM, Bartoszewska-Kubiak A, Lazarczyk E, Loska D, Drozniewska M, Czerska K, Wachowiak J, Haus O.
Repczynska A, et al.
Orphanet J Rare Dis. 2022 Jul 19;17(1):282. doi: 10.1186/s13023-022-02424-4.
Orphanet J Rare Dis. 2022.
PMID: 35854323
Free PMC article.
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The Levels of Pregnancy-Associated Plasma Protein (PAPP-A) and Chorionic Gonadotropin (β-hCG) in the Blood Serum of Women with Hypothyroidism in the 1st Trimester of Pregnancy.
Pasińska M, Balcerek E, Repczyńska A, Łazarczyk E.
Pasińska M, et al. Among authors: repczynska a.
Int J Womens Health. 2023 Feb 5;15:167-176. doi: 10.2147/IJWH.S386414. eCollection 2023.
Int J Womens Health. 2023.
PMID: 36778751
Free PMC article.
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Cytogenetic findings in Polish patients with suspected Fanconi anemia.
Repczyńska A, Jułga K, Lorenc A, Skalska-Sadowska J, Wysocki M, Zaucha-Prażmo A, Drabko K, Bossowski A, Dembowska-Bagińska B, Wachowiak J, Buciński A, Haus O.
Repczyńska A, et al.
Adv Clin Exp Med. 2024 Apr;33(4):361-368. doi: 10.17219/acem/168825.
Adv Clin Exp Med. 2024.
PMID: 37540155
Free article.
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