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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.
Stembalska A, Rydzanicz M, Klaniewska M, Dudarewicz L, Pollak A, Biela M, Stawinski P, Ploski R, Smigiel R. Stembalska A, et al. Among authors: dudarewicz l. Genes (Basel). 2022 Jul 27;13(8):1339. doi: 10.3390/genes13081339. Genes (Basel). 2022. PMID: 35893076 Free PMC article.
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa J, Wawrocka A, Stańczyk M, Pesz K, Dudarewicz L, Chrul S, Bukowska-Olech E, Wieczorek-Cichecka N, Arts HH, Oud MM, Śmigiel R, Grenda R, Obersztyn E, Chrzanowska KH, Latos-Bieleńska A. Walczak-Sztulpa J, et al. Among authors: dudarewicz l. Am J Med Genet A. 2021 Apr;185(4):1195-1203. doi: 10.1002/ajmg.a.62067. Epub 2021 Jan 9. Am J Med Genet A. 2021. PMID: 33421337
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
Jezela-Stanek A, Ciara E, Małunowicz E, Chrzanowska K, Latos-Bieleńska A, Krajewska-Walasek M; Smith-Lemli-Opitz syndrome Collaborative Group. Jezela-Stanek A, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S241-8. doi: 10.1007/s10545-010-9132-4. Epub 2010 Jun 16. J Inherit Metab Dis. 2010. PMID: 20556518
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A, Geremek M, Roszkowski T, Bijok J, Massalska D, Ciebiera M, Correia H, Pereira-Caetano I, Barreta A, Obersztyn E, Kutkowska-Kaźmierczak A, Własienko P, Krajewska-Walasek M, Węgrzyn P, Dudarewicz L, Krzeszowski W, Rybak-Krzyszkowska M, Nowakowska B. Kucińska-Chahwan A, et al. Among authors: dudarewicz l. Genes (Basel). 2022 Apr 21;13(5):724. doi: 10.3390/genes13050724. Genes (Basel). 2022. PMID: 35627109 Free PMC article.
Reliable detection of trisomy 21 using MALDI-TOF mass spectrometry.
Huang DJ, Nelson MR, Zimmermann B, Dudarewicz L, Wenzel F, Spiegel R, Nagy B, Holzgreve W, Hahn S. Huang DJ, et al. Among authors: dudarewicz l. Genet Med. 2006 Nov;8(11):728-34. doi: 10.1097/01.gim.0000245573.42908.34. Genet Med. 2006. PMID: 17108765 Free article.
17 results