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Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans.
Ercan-Sencicek, A Gulhan; Jambi, Samira; Franjic, Daniel; Nishimura, Sayoko; Li, Mingfeng; El-Fishawy, Paul; Morgan, Thomas M; Sanders, Stephan J; Bilguvar, Kaya; Suri, Mohnish; Johnson, Michele H; Gupta, Abha R; Yuksel, Zafer; Mane, Shrikant; Grigorenko, Elena; Picciotto, Marina; Alberts, Arthur S; Gunel, Murat; Sestan, Nenad; State, Matthew W.
  • Ercan-Sencicek AG; 1] Child Study Center, Yale University School of Medicine, New Haven, CT, USA [2] Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA.
  • Jambi S; Al Hada Armed Hospitals, Taif, Saudi Arabia.
  • Franjic D; Department of Neurobiology and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA.
  • Nishimura S; 1] Child Study Center, Yale University School of Medicine, New Haven, CT, USA [2] Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA.
  • Li M; Department of Neurobiology and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA.
  • El-Fishawy P; Child Study Center, Yale University School of Medicine, New Haven, CT, USA.
  • Morgan TM; Department of Pediatrics, Vanderbilt University, Nashville, TN, USA.
  • Sanders SJ; Department of Psychiatry, University of California, School of Medicine, San Francisco, CA, USA.
  • Bilguvar K; 1] Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA [2] Yale Center for Mendelian Genomics, New Haven, CT, USA.
  • Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS, Trust City Hospital Campus, Nottingham, UK.
  • Johnson MH; Departments of Diagnostic Radiology, Surgery and Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.
  • Gupta AR; 1] Child Study Center, Yale University School of Medicine, New Haven, CT, USA [2] Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
  • Yuksel Z; Department of Medical Genetics, Osmangazi University, School of Medicine, Eskisehir, Turkey.
  • Mane S; 1] Yale Center for Mendelian Genomics, New Haven, CT, USA [2] Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
  • Grigorenko E; 1] Child Study Center, Yale University School of Medicine, New Haven, CT, USA [2] Moscow State University for Psychology and Education, Moscow, Russia.
  • Picciotto M; 1] Child Study Center, Yale University School of Medicine, New Haven, CT, USA [2] Department of Neurobiology and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA [3] Departments of Psychiatry, Pharmocology Yale University School of Medicine, New Haven, CT, USA.
  • Alberts AS; Laboratory of Cell Structure and Signal Integration, Van Andel Research Institute, Grand Rapids, MI, USA.
  • Gunel M; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA.
  • Sestan N; Department of Neurobiology and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA.
  • State MW; Department of Psychiatry, University of California, School of Medicine, San Francisco, CA, USA.
Eur J Hum Genet ; 23(2): 165-72, 2015 Feb.
Article en En | MEDLINE | ID: mdl-24781755
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Codón sin Sentido / Proteínas Adaptadoras Transductoras de Señales / Homocigoto / Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Codón sin Sentido / Proteínas Adaptadoras Transductoras de Señales / Homocigoto / Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2015 Tipo del documento: Article