Damien Sanlaville
AuthID: R-00G-CS0
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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; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 2
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; ...More
PUBLISHED: 2016, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 24, ISSUE: 2
2
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; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 1
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; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 1