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BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.
Pode-Shakked, Naomi; Barel, Ortal; Pode-Shakked, Ben; Eliyahu, Aviva; Singer, Amihood; Nayshool, Omri; Kol, Nitzan; Raas-Rothschild, Annick; Pras, Elon; Shohat, Mordechai.
Afiliação
  • Pode-Shakked N; Department of Pediatrics A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Barel O; The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Pode-Shakked B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Eliyahu A; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Singer A; The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Nayshool O; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Kol N; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
  • Raas-Rothschild A; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Pras E; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
  • Shohat M; Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel.
Mol Genet Genomic Med ; 7(6): e665, 2019 06.
Article em En | MEDLINE | ID: mdl-31020800
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Adaptadoras de Transdução de Sinal / Proteínas de Ligação a DNA / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Adaptadoras de Transdução de Sinal / Proteínas de Ligação a DNA / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article