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ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Kloth, Katja; Lozic, Bernarda; Tagoe, Julia; Hoffer, Mariëtte J V; Van der Ven, Amelie; Thiele, Holger; Altmüller, Janine; Kubisch, Christian; Au, Ping Yee Billie; Denecke, Jonas; Bijlsma, Emilia K; Lessel, Davor.
Afiliação
  • Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.
  • Lozic B; Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Tagoe J; Department of Pediatrics, University Hospital Split, School of Medicine, University of Split, Split, Croatia.
  • Hoffer MJV; Lethbridge Outreach Genetic Services, Alberta Health Services, Lethbridge, AB, T1J 1W5, Canada.
  • Van der Ven A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Thiele H; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.
  • Altmüller J; Cologne Center for Genomics, University of Cologne and University Hospital Cologne, Cologne, Germany.
  • Kubisch C; Cologne Center for Genomics, University of Cologne and University Hospital Cologne, Cologne, Germany.
  • Au PYB; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany.
  • Denecke J; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.
  • Bijlsma EK; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Lessel D; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Neurogenetics ; 22(4): 263-269, 2021 10.
Article em En | MEDLINE | ID: mdl-34218362
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anquirinas / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Deficiência Intelectual Limite: Adolescent / Child / Humans / Male Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anquirinas / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Deficiência Intelectual Limite: Adolescent / Child / Humans / Male Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Alemanha