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TÃTULO: Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience Full Text
AUTORES: Kucinska Chahwan, Anna; Geremek, Maciej; Roszkowski, Tomasz; Bijok, Julia; Massalska, Diana; Ciebiera, Michal; Correia, Hildeberto; Pereira Caetano, Iris; Barreta, Ana; Obersztyn, Ewa; Kutkowska Kazmierczak, Anna; Wlasienko, Pawel; Krajewska Walasek, Malgorzata; Wegrzyn, Piotr; Dudarewicz, Lech; Krzeszowski, Waldemar; Rybak Krzyszkowska, Magda; Nowakowska, Beata;
PUBLICAÇÃO: 2022, FONTE: GENES, VOLUME: 13, NÚMERO: 5

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TÃTULO: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Full Text
AUTORES: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; Denise Horn; Danny Huylebroeck; Jakub Klapecki; Malgorzata Krajewska Walasek; Alma Kuechler; Matthew A Lines; Saskia Maas; Kay D MacDermot; Shane McKee; Alex Magee; Stella A de Man; Yves Moreau; Fanny Morice Picard; Ewa Obersztyn; Jacek Pilch; Elizabeth Rosser; Nora Shannon; Irene Stolte Dijkstra; Patrick Van Dijck; Catheline Vilain; Annick Vogels; Emma Wakeling; Dagmar Wieczorek; Louise Wilson; Orsetta Zuffardi; Antoine H C van Kampen; Koenraad Devriendt; Raoul Hennekam; Joris Robert Vermeesch; ...Mais
PUBLICAÇÃO: 2012, FONTE: NATURE GENETICS, VOLUME: 44, NÚMERO: 4

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