ProfileOfResearchers

TITLE: A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
AUTHORS: Rajae El Malti; Hui Liu; Berenice Doray; Christel Thauvin; Alice Maltret; Claire Dauphin; Miguel Gonacalves Rocha; Michel Teboul; Patricia Blanchet; Joelle Roume; Celine Gronier; Corinne Ducreux; Magali Veyrier; Francois Marcon; Philippe Acar; Jean Rene Lusson; Marilyne Levy; Constance Beyler; Jacqueline Vigneron; Marie Pierre Cordier Alex; Francois Heitz; Damien Sanlaville; Damien Bonnet; Patrice Bouvagnet; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 2

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TITLE: Novel Comprehensive Diagnostic Strategy in Pitt-Hopkins Syndrome: Clinical Score and Further Delineation of the TCF4 Mutational Spectrum Full Text
AUTHORS: Sandra Whalen; Delphine Heron; Thierry Gaillon; Oana Moldovan; Massimiliano Rossi; Franc Oise Devillard; Fabienne Giuliano; Gabriela Soares; Michelle Mathieu Dramard; Alexandra Afenjar; Perrine Charles; Cyril Mignot; Lydie Burglen; Lionel Van Maldergem; Juliette Piard; Salim Aftimos; Grazia Mancini; Patricia Dias; Nicole Philip; Alice Goldenberg; Martine Le Merrer; Marlene Rio; Dragana Josifova; Johanna Maria Van Hagen; Didier Lacombe; Patrick Edery; Sophie Dupuis Girod; Audrey Putoux; Damien Sanlaville; Richard Fischer; Loic Drevillon; Audrey Briand Suleau; Corinne Metay; Michel Goossens; Jeanne Amiel; Aurelia Jacquette; Irina Giurgea; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 1

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