Elaine H. Zackai
AuthID: R-00G-CEQ
1
TÃTULO: Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2019, FONTE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 62, NÚMERO: 12
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2019, FONTE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 62, NÚMERO: 12
INDEXADO EM: 
Scopus 
WOS
Scopus WOS2
TÃTULO: Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome. Truncating Mutations in the Last Exon of NOTCH3 Full Text
AUTORES: Karen W Gripp; Katherine M Robbins; Nara L Sobreira; Dane D Witmer; Lynne M Bird; Kristiina Avela; Outi Makitie; Daniela Alves; Jacob S Hogue; Elaine H Zackai; Kimberly F Doheny; Deborah L Stabley; Katia Sol Church;
PUBLICAÇÃO: 2015, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167A, NÚMERO: 2
AUTORES: Karen W Gripp; Katherine M Robbins; Nara L Sobreira; Dane D Witmer; Lynne M Bird; Kristiina Avela; Outi Makitie; Daniela Alves; Jacob S Hogue; Elaine H Zackai; Kimberly F Doheny; Deborah L Stabley; Katia Sol Church;
PUBLICAÇÃO: 2015, FONTE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167A, NÚMERO: 2
