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TÍTULO: ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
AUTORES: Awamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S.; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina; Louro, Pedro ; Dias, Patricia; Neves, Mariana Tomasio; Sousa, Sergio B.; Weksberg, Rosanna;
PUBLICAÇÃO: 2022, FONTE: HUMAN MOLECULAR GENETICS, VOLUME: 32, NÚMERO: 9
INDEXADO EM: Scopus WOS
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TÍTULO: Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders
AUTORES: Rebekah Jobling; Dimitri James Stavropoulos; Christian R Marshall; Cheryl Cytrynbaum; Michelle M Axford; Vanessa Londero; Sharon Moalem; Jennifer Orr; Francis Rossignol; Fatima Daniela Lopes; Julie Gauthier; Nathalie Alos; Rosemarie Rupps; Margaret McKinnon; Shelin Adam; Malgorzata J M Nowaczyk; Susan Walker; Stephen W Scherer; Christina Nassif; Fadi F Hamdan; Cheri L Deal; Jean Francois Soucy; Rosanna Weksberg; Patrick Macleod; Jacques L Michaud; David Chitayat; ...Mais
PUBLICAÇÃO: 2018, FONTE: JOURNAL OF MEDICAL GENETICS, VOLUME: 55, NÚMERO: 5
INDEXADO EM: WOS