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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Reliable detection of trisomy 21 using MALDI-TOF mass spectrometryDorothy J Huang, Matthew R Nelson, Bernhard Zimmermann, et al.The Application of Clinical Genetics|January 21, 2026
Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal DiagnosisUrszula Wysocka, Jolanta Stępniewska, Magdalena Kozłowska, et al.American Journal of Medical Genetics. Part A|January 9, 2021
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35Joanna Walczak-Sztulpa, Anna Wawrocka, Małgorzata Stańczyk, et al.Genes|May 28, 2022
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish ExperienceAnna Kucińska-Chahwan, Maciej Geremek, Tomasz Roszkowski, et al.Pageof 2