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Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication.
Biomedicines. 2022 Nov 30;10(12):3078. doi: 10.3390/biomedicines10123078.
Biomedicines. 2022.
PMID: 36551834
Free PMC article.
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: barreta a.
Genes (Basel). 2022 Apr 21;13(5):724. doi: 10.3390/genes13050724.
Genes (Basel). 2022.
PMID: 35627109
Free PMC article.
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