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Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W; Traeger-Synodinos, Joanne; Bento, Celeste; Harteveld, Cornelis L; Fylaktou, Eirini; Koopmann, Tamara T; Halim-Fikri, Hashim; Michailidou, Kyriaki; Nfonsam, Landry E; Waye, John S; Zilfalil, Bin A; Kleanthous, Marina.
Afiliação
  • Kountouris P; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Stephanou C; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Lederer CW; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Traeger-Synodinos J; Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Bento C; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Harteveld CL; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Fylaktou E; Department of Haematology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Koopmann TT; Department of Clinical Genetics/LDGA, Leiden University Medical Center, Leiden, Netherlands.
  • Halim-Fikri H; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Michailidou K; Department of Clinical Genetics/LDGA, Leiden University Medical Center, Leiden, Netherlands.
  • Nfonsam LE; School of Medical Sciences, Universiti Sains Malaysia, Malaysia.
  • Waye JS; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Zilfalil BA; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Kleanthous M; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Canada.
Hum Mutat ; 43(8): 1089-1096, 2022 08.
Article em En | MEDLINE | ID: mdl-34510646
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Hemoglobinopatias Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans País/Região como assunto: America do norte Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Chipre
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Hemoglobinopatias Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Humans País/Região como assunto: America do norte Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Chipre