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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
Pode-Shakked, B; Barash, H; Ziv, L; Gripp, K W; Flex, E; Barel, O; Carvalho, K S; Scavina, M; Chillemi, G; Niceta, M; Eyal, E; Kol, N; Ben-Zeev, B; Bar-Yosef, O; Marek-Yagel, D; Bertini, E; Duker, A L; Anikster, Y; Tartaglia, M; Raas-Rothschild, A.
Afiliação
  • Pode-Shakked B; The Institute for Rare Diseases, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
  • Barash H; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Ziv L; The Dr Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Gripp KW; The Institute for Rare Diseases, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
  • Flex E; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Barel O; Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, DE, USA.
  • Carvalho KS; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Scavina M; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Chillemi G; Section of Pediatric Neurology, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USA.
  • Niceta M; Division of Pediatric Neurology, A.I. duPont Hospital for Children, Wilmington, DE, USA.
  • Eyal E; SCAI-Super Computing Applications and Innovation Department, CINECA, Rome, Italy.
  • Kol N; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
  • Ben-Zeev B; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Bar-Yosef O; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Marek-Yagel D; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Bertini E; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Tel-Hashomer, Israel.
  • Duker AL; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Anikster Y; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Tel-Hashomer, Israel.
  • Tartaglia M; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Raas-Rothschild A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
Clin Genet ; 91(5): 725-738, 2017 May.
Article em En | MEDLINE | ID: mdl-27807845
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Deficiências do Desenvolvimento / Microcefalia / Proteínas Associadas aos Microtúbulos Tipo de estudo: Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Convulsões / Deficiências do Desenvolvimento / Microcefalia / Proteínas Associadas aos Microtúbulos Tipo de estudo: Prognostic_studies Limite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article