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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2004 1
2005 2
2010 3
2014 2
2015 2
2016 3
2017 2
2019 1
2020 7
2021 3
2022 1
2023 3
2024 0

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27 results

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Page 1
Clinical heterogeneity of polish patients with KAT6B-related disorder.
Klaniewska M, Bolanowska-Tyszko A, Latos-Bielenska A, Jezela-Stanek A, Szczaluba K, Krajewska-Walasek M, Ciara E, Pelc M, Jurkiewicz D, Stawinski P, Zubkiewicz-Kucharska A, Rydzanicz M, Ploski R, Smigiel R. Klaniewska M, et al. Among authors: jurkiewicz d. Mol Genet Genomic Med. 2023 Dec;11(12):e2265. doi: 10.1002/mgg3.2265. Epub 2023 Sep 1. Mol Genet Genomic Med. 2023. PMID: 37658610 Free PMC article.
Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls.
Lipiński P, Jurkiewicz D, Ciara E, Płoski R, Więcek S, Bogdańska A, Stradomska T, Socha P, Rokicki D, Tylki-Szymańska A, Jankowska I. Lipiński P, et al. Among authors: jurkiewicz d. Acta Biochim Pol. 2020 May 21;67(2):225-228. doi: 10.18388/abp.2020_5202. Acta Biochim Pol. 2020. PMID: 32436673 Free article.
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: jurkiewicz d. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 26927468 Free article. Review.
Anthropometric characteristics of X-linked hypophosphatemia.
Pronicka E, Popowska E, Rowińska E, Arasimowicz E, Syczewska M, Jurkiewicz D, Lebiedowski M. Pronicka E, et al. Among authors: jurkiewicz d. Am J Med Genet A. 2004 Apr 15;126A(2):141-9. doi: 10.1002/ajmg.a.20572. Am J Med Genet A. 2004. PMID: 15057978
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
Jezela-Stanek A, Ciara E, Jurkiewicz D, Kucharczyk M, Jędrzejowska M, Chrzanowska KH, Krajewska-Walasek M, Żemojtel T. Jezela-Stanek A, et al. Among authors: jurkiewicz d. Mol Genet Genomic Med. 2020 Sep;8(9):e1263. doi: 10.1002/mgg3.1263. Epub 2020 Apr 26. Mol Genet Genomic Med. 2020. PMID: 32337850 Free PMC article.
27 results