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GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
Cediel, Maria Lucia; Stawarski, Michal; Blanc, Xavier; Nosková, Lenka; Magner, Martin; Platzer, Konrad; Gburek-Augustat, Janina; Baldridge, Dustin; Constantino, John N; Ranza, Emmanuelle; Bettler, Bernhard; Antonarakis, Stylianos E.
Affiliation
  • Cediel ML; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland.
  • Stawarski M; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50/70, 4056 Basel, Switzerland.
  • Blanc X; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland.
  • Nosková L; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Magner M; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; Department of Pediatrics, First Faculty of Medicine, Charles University and University Thomayer Hospital in Prague, Prague, Cze
  • Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.
  • Baldridge D; Washington University in St. Louis, St. Louis, MO, USA.
  • Constantino JN; Washington University in St. Louis, St. Louis, MO, USA.
  • Ranza E; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland.
  • Bettler B; Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50/70, 4056 Basel, Switzerland.
  • Antonarakis SE; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland. Electronic address: stylianos.antonarakis@medigenome.ch.
Am J Hum Genet ; 109(10): 1885-1893, 2022 10 06.
Article in En | MEDLINE | ID: mdl-36103875
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, GABA-B / Epilepsy / Neurodevelopmental Disorders / Intellectual Disability / Nervous System Malformations Limits: Humans Language: En Journal: Am J Hum Genet Year: 2022 Document type: Article Affiliation country: Suiza Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, GABA-B / Epilepsy / Neurodevelopmental Disorders / Intellectual Disability / Nervous System Malformations Limits: Humans Language: En Journal: Am J Hum Genet Year: 2022 Document type: Article Affiliation country: Suiza Country of publication: Estados Unidos