Slezak R - Search Results

1

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Dawidziuk M, Gambin T, Bukowska-Olech E, Antczak-Marach D, Badura-Stronka M, Buda P, Budzynska E, Castaneda J, Chilarska T, Czyzyk E, Eckersdorf-Mastalerz A, Fijak-Moskal J, Gieruszczak-Bialek D, Glodek-Brzozowska E, Goszczanska-Ciuchta A, Grzeszykowska-Podymniak M, Gurda B, Jakubiuk-Tomaszuk A, Jamroz E, Janeczko M, Jedlińska-Pijanowska D, Jurek M, Karolewska D, Kazmierczak A, Kleist T, Kochanowska I, Krajewska-Walasek M, Kufel K, Kutkowska-Kaźmierczak A, Lipiec A, Maksym-Gasiorek D, Materna-Kiryluk A, Mazurkiewicz H, Milewski M, Pavina-Guglas T, Pietrzyk A, Posmyk R, Pyrkosz A, Rudzka-Dybala M, Slezak R, Wisniewska M, Zalewska-Miszkurka Z, Szczepanik E, Obersztyn E, Bekiesinska-Figatowska M, Gawlinski P, Wiszniewski W. Dawidziuk M, et al. Among authors: slezak r. Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014. Genes (Basel). 2021. PMID: 34946966 Free PMC article.

2

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.

Slezak R, Smigiel R, Obersztyn E, Pollak A, Dawidziuk M, Wiszniewski W, Bekiesinska-Figatowska M, Rydzanicz M, Ploski R, Gawlinski P. Slezak R, et al. Genes (Basel). 2021 Apr 19;12(4):594. doi: 10.3390/genes12040594. Genes (Basel). 2021. PMID: 33921653 Free PMC article.

3

Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.

Slezak R, Smigiel R, Rydzanicz M, Pollak A, Kosinska J, Stawinski P, Malgorzata Sasiadek M, Ploski R. Slezak R, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1432. doi: 10.1002/mgg3.1432. Epub 2020 Jul 24. Mol Genet Genomic Med. 2020. PMID: 32705777 Free PMC article.

4

Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders.

Łaczmańska I, Stembalska A, Złocińska M, Kozłowska J, Skiba P, Pesz K, Ślęzak R, Śmigiel R, Jakubiak A, Misiak B, Sąsiadek MM. Łaczmańska I, et al. Among authors: slezak r. Adv Clin Exp Med. 2020 Jan;29(1):101-106. doi: 10.17219/acem/112609. Adv Clin Exp Med. 2020. PMID: 31990460 Free article.

5

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report.

Klaniewska M, Toczewski K, Rozensztrauch A, Bloch M, Dzielendziak A, Gasperowicz P, Slezak R, Ploski R, Rydzanicz M, Smigiel R, Patkowski D. Klaniewska M, et al. Among authors: slezak r. Front Pediatr. 2021 Dec 2;9:783553. doi: 10.3389/fped.2021.783553. eCollection 2021. Front Pediatr. 2021. PMID: 34926353 Free PMC article.

6

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

Stembalska A, Slezak R, Pesz K, Gil J, Sasiadek M. Stembalska A, et al. Among authors: slezak r. Folia Histochem Cytobiol. 2007;45 Suppl 1:S11-6. Folia Histochem Cytobiol. 2007. PMID: 18292841 Review.

7

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Podralska MJ, Stembalska A, Ślęzak R, Lewandowicz-Uszyńska A, Pietrucha B, Kołtan S, Wigowska-Sowińska J, Pilch J, Mosor M, Ziółkowska-Suchanek I, Dzikiewicz-Krawczyk A, Słomski R. Podralska MJ, et al. Among authors: slezak r. Mol Genet Genomic Med. 2014 Nov;2(6):504-11. doi: 10.1002/mgg3.98. Epub 2014 Jul 30. Mol Genet Genomic Med. 2014. PMID: 25614872 Free PMC article.

8

Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.

Myszka A, Karpinski P, Slezak R, Czemarmazowicz H, Stembalska A, Gil J, Laczmanska I, Bednarczyk D, Szmida E, Sasiadek MM. Myszka A, et al. Among authors: slezak r. J Appl Genet. 2011 May;52(2):185-91. doi: 10.1007/s13353-010-0013-1. Epub 2010 Dec 1. J Appl Genet. 2011. PMID: 21120647

9

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.

Nguyen-Dumont T, Myszka A, Karpinski P, Sasiadek MM, Akopyan H, Hammet F, Tsimiklis H, Park DJ, Pope BJ, Slezak R, Kitsera N, Siekierzynska A, Southey MC. Nguyen-Dumont T, et al. Among authors: slezak r. BMC Med Genet. 2018 Jan 19;19(1):12. doi: 10.1186/s12881-018-0524-x. BMC Med Genet. 2018. PMID: 29351780 Free PMC article.

10

Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature.

Smigiel R, Jakubiak A, Lombardi MP, Jaworski W, Slezak R, Patkowski D, Hennekam RC. Smigiel R, et al. Among authors: slezak r. Am J Med Genet A. 2011 May;155A(5):1102-5. doi: 10.1002/ajmg.a.33895. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484999 Review.

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