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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; Picoraro, Joseph A; Shaag, Avraham; Cho, Megan T; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; Pappas, John G; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassam; Hediger, Matthias A; Chung, Wendy K; Elpeleg, Orly; Edvardson, Simon.
Afiliação
  • Damseh N; Department of Pediatrics, Al-Makassed Islamic Hospital, Jerusalem, Israel.
  • Simonin A; NCCR TransCure, Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.
  • Jalas C; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, USA.
  • Picoraro JA; Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.
  • Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Cho MT; Department of Pediatrics, Columbia University Medical Center, New York, New York, USA GeneDx, Gaithersburg, Maryland, USA.
  • Yaacov B; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Neidich J; GeneDx, Gaithersburg, Maryland, USA.
  • Al-Ashhab M; Department of Pediatrics, Al-Makassed Islamic Hospital, Jerusalem, Israel.
  • Juusola J; GeneDx, Gaithersburg, Maryland, USA.
  • Bale S; GeneDx, Gaithersburg, Maryland, USA.
  • Telegrafi A; GeneDx, Gaithersburg, Maryland, USA.
  • Retterer K; GeneDx, Gaithersburg, Maryland, USA.
  • Pappas JG; Department of Pediatrics, New York University, New York, New York, USA.
  • Moran E; Department of Pediatrics, New York University, New York, New York, USA.
  • Cappell J; Department of Neurology, Columbia University Medical Center, New York, New York, USA.
  • Anyane Yeboa K; Department of Pediatrics, Columbia University Medical Center, New York, New York, USA.
  • Abu-Libdeh B; Department of Pediatrics, Al-Makassed Islamic Hospital, Jerusalem, Israel.
  • Hediger MA; NCCR TransCure, Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.
  • Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, New York, USA Department of Medicine, Columbia University Medical Center, New York, New York, USA.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
J Med Genet ; 52(8): 541-7, 2015 Aug.
Article em En | MEDLINE | ID: mdl-26041762
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Sistema ASC de Transporte de Aminoácidos / Microcefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Sistema ASC de Transporte de Aminoácidos / Microcefalia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article