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Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in <i>DYNC2H1</i> Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skele... by Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski, Robert Smigiel
Published 2022-07-01
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Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience by Anna Kucińska-Chahwan, Maciej Geremek, Tomasz Roszkowski, Julia Bijok, Diana Massalska, Michał Ciebiera, Hildeberto Correia, Iris Pereira-Caetano, Ana Barreta, Ewa Obersztyn, Anna Kutkowska-Kaźmierczak, Paweł Własienko, Małgorzata Krajewska-Walasek, Piotr Węgrzyn, Lech Dudarewicz, Waldemar Krzeszowski, Magda Rybak-Krzyszkowska, Beata Nowakowska
Published 2022-04-01
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