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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Marin-Valencia, Isaac; Gerondopoulos, Andreas; Zaki, Maha S; Ben-Omran, Tawfeg; Almureikhi, Mariam; Demir, Ercan; Guemez-Gamboa, Alicia; Gregor, Anne; Issa, Mahmoud Y; Appelhof, Bart; Roosing, Susanne; Musaev, Damir; Rosti, Basak; Wirth, Sara; Stanley, Valentina; Baas, Frank; Barr, Francis A; Gleeson, Joseph G.
Afiliação
  • Marin-Valencia I; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
  • Gerondopoulos A; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK.
  • Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12311 Cairo, Egypt.
  • Ben-Omran T; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, 3050 Doha, Qatar.
  • Almureikhi M; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, 3050 Doha, Qatar.
  • Demir E; Gazi University, Department of Pediatric Neurology, 06500 Ankara, Turkey.
  • Guemez-Gamboa A; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
  • Gregor A; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
  • Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, 12311 Cairo, Egypt.
  • Appelhof B; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
  • Roosing S; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.
  • Musaev D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
  • Rosti B; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92
  • Wirth S; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
  • Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92093, USA.
  • Baas F; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.
  • Barr FA; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, UK.
  • Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rady Children's Institute for Genomic Medicine, University of California, San Diego, San Diego, CA 92
Am J Hum Genet ; 101(3): 441-450, 2017 Sep 07.
Article em En | MEDLINE | ID: mdl-28823706
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Proteínas Ativadoras de GTPase / Homozigoto / Microcefalia / Mutação Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Cerebelares / Proteínas Ativadoras de GTPase / Homozigoto / Microcefalia / Mutação Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos