Your browser doesn't support javascript.
loading
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Marafi, Dana; Mitani, Tadahiro; Isikay, Sedat; Hertecant, Jozef; Almannai, Mohammed; Manickam, Kandamurugu; Abou Jamra, Rami; El-Hattab, Ayman W; Rajah, Jaishen; Fatih, Jawid M; Du, Haowei; Karaca, Ender; Bayram, Yavuz; Punetha, Jaya; Rosenfeld, Jill A; Jhangiani, Shalini N; Boerwinkle, Eric; Akdemir, Zeynep C; Erdin, Serkan; Hunter, Jill V; Gibbs, Richard A; Pehlivan, Davut; Posey, Jennifer E; Lupski, James R.
Afiliação
  • Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
  • Mitani T; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, 13110, Safat, Kuwait.
  • Isikay S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
  • Hertecant J; Department of Physiotherapy and Rehabilitation, School of Health Sciences, Hasan Kalyoncu University, Gaziantep, 27000, Turkey.
  • Almannai M; Pediatric Metabolic and Genetics Division, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates.
  • Manickam K; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, 11525, Saudi Arabia.
  • Abou Jamra R; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio.
  • El-Hattab AW; Institute of Human Genetics, University Medical Center Leipzig, 04103, Leipzig, Germany.
  • Rajah J; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, 27272, United Arab Emirates.
  • Fatih JM; Sheikh Khalifa Medical City (SKMC), P.O. Box: 51900, Abu Dhabi, United Arab Emirates.
  • Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
  • Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
  • Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
  • Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030.
  • Akdemir ZC; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030.
  • Erdin S; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas.
  • Hunter JV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
  • Gibbs RA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
  • Pehlivan D; Texas Children's Hospital, Houston, Texas, 77030.
  • Posey JE; Department of Radiology, Baylor College of Medicine, Houston, Texas, 77030.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030.
Ann Clin Transl Neurol ; 7(5): 610-627, 2020 05.
Article em En | MEDLINE | ID: mdl-32286009
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de Glutamato Metabotrópico / Epilepsia / Transtornos do Neurodesenvolvimento / Microcefalia Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de Glutamato Metabotrópico / Epilepsia / Transtornos do Neurodesenvolvimento / Microcefalia Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article