Isabelle Thiffault
AuthID: R-00J-7G7
1
TITLE: Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
AUTHORS: Elizabeth J Bhoj; Damien Haye; Annick Toutain; Dominique Bonneau; Irene Kibaek Nielsen; Ida Bay Lund; Pauline Bogaard; Stine Leenskjold; Kadri Karaer; Katherine T Wild; Katheryn L Grand; Mirena C Astiazaran; Luis A Gonzalez Nieto; Ana Carvalho; Daphne Lehalle; Shivarajan M Amudhavalli; Elena Repnikova; Carol Saunders; Isabelle Thiffault; Irfan Saadi; ...More
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 62, ISSUE: 12
AUTHORS: Elizabeth J Bhoj; Damien Haye; Annick Toutain; Dominique Bonneau; Irene Kibaek Nielsen; Ida Bay Lund; Pauline Bogaard; Stine Leenskjold; Kadri Karaer; Katherine T Wild; Katheryn L Grand; Mirena C Astiazaran; Luis A Gonzalez Nieto; Ana Carvalho; Daphne Lehalle; Shivarajan M Amudhavalli; Elena Repnikova; Carol Saunders; Isabelle Thiffault; Irfan Saadi; ...More
PUBLISHED: 2019, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 62, ISSUE: 12
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