Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rebecca Buchert-Lo"'
Autor:
Andreas Dufke, Markus Hoopmann, Stephan Waldmüller, Natalia Carmen Prodan, Stefanie Beck‐Wödl, Ute Grasshoff, Tilman Heinrich, Angelika Riess, Martin Kehrer, Ruth J. Falb, Alexandra Liebmann, Cristiana Roggia, Miriam Stampfer, Malou Schadeck, Amelie J. Müller, Mona Grimmel, Petra Stöbe, Darja Gauck, Rebecca Buchert‐Lo, Sarah Baumann, Karin Schäferhoff, Miriam Bertrand, Benita Menden, Marc Sturm, Leon Schütz, Olaf Riess, Stephan Ossowski, Tobias B. Haack, Karl Oliver Kagan
Publikováno v:
Prenatal Diagnosis. 42:901-910
To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses.We recruited 51 fetuses with two or more defects, non-immune fetal hydrops or feta
Autor:
Gaël Nicolas, Yline Capri, Alban Ziegler, Christiane Zweier, Bénédicte Duban-Bedu, Roberta Polli, Neda Mazaheri, Alessandra Murgia, Cindy Colson, Pascale Saugier-Veber, Reza Maroofian, Laurence Perrin, François Lecoquierre, Stephan Waldmüller, Benjamin Cogné, Angelika Rieß, A.S. Lebre, M. Brasseur-Daudruy, Bert Callewaert, Antje Wiesener, Anne-Marie Guerrot, Thierry Frebourg, Thomas Smol, Benjamin Durand, Rebecca Buchert-Lo, Veronka Horber, Tobias B. Haack, Patrick Edery, Gabriella Vera, Gaetan Lesca, Geoffroy Delplancq, Sandra Mercier, Christopher Carroll, Maria Blandfort, Khaoula Zaafrane-Khachnaoui, Hamid Galehdari, Emanuela Leonardi, Arthur Sorlin, Fabienne Giulianno, Isabelle Sabatier, Florence Petit, Licia Turolla, Nicolas Chatron, Amélie Piton, Janine Magg, Estelle Colin, Stéphane Bézieau, Dominique Bonneau
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩
European Journal of Medical Genetics, Elsevier, 2020, pp.104004. ⟨10.1016/j.ejmg.2020.104004⟩
De novo pathogenic variants in the GATAD2B gene have been associated with a syndromic neurodevelopmental disorder (GAND) characterized by severe intellectual disability (ID), impaired speech, childhood hypotonia, and dysmorphic features. Since its fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68443eb210ac2cf30fc6fb87c9f8cf57
https://hal.archives-ouvertes.fr/hal-02904491
https://hal.archives-ouvertes.fr/hal-02904491
Autor:
Annette Weichselbaum, Janine Magg, Ingeborg Krägeloh-Mann, Tobias B. Haack, Rebecca Buchert-Lo
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.