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TITLE: The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review  Full Text
AUTHORS: Fatima Lopes; Fatima Torres; Gabriela Soares; Clara D van Karnebeek; Cecilia Martins; Diana Antunes; Joao Silva; Lauren Muttucomaroe; Luis Filipe Botelho; Susana Sousa; Paula Rendeiro; Purificacao Tavares; Hilde Van Esch; Evica Rajcan Separovic; Patricia Maciel;
PUBLISHED: 2019, SOURCE: FRONTIERS IN GENETICS, VOLUME: 10, ISSUE: FEB
INDEXED IN: Scopus WOS
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TITLE: Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2  Full Text
AUTHORS: Jiadi Wen; Fatima Lopes; Gabriela Soares; Sandra A Farrell; Cara Nelson; Ying Qiao; Sally Martell; Chansonette Badukke; Carlos Bessa ; Bauke Ylstra; Suzanne Lewis; Nina Isoherranen; Patricia Maciel ; Evica Rajcan Separovic;
PUBLISHED: 2013, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef