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Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label".
Withers, Chelsea M; Fleming, Jane; Wallingford, Courtney K; Gabbett, Michael T; Peterson, Madelyn; Humphreys, Linda; McInerney-Leo, Aideen.
Affiliation
  • Withers CM; Tasman Oncology Research, Southport, Queensland, Australia.
  • Fleming J; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
  • Wallingford CK; The University of Queensland Diamantina Institute, The University of Queensland, Woolloongabba, Queensland, Australia.
  • Gabbett MT; Graduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia.
  • Peterson M; School of Biomedical Sciences & Institute of Health and Biomedical Innovation, Queensland University of Technology (QUT), Kelvin Grove, Queensland, Australia.
  • Humphreys L; Griffith University, Biomolecular and Physical Sciences, Nathan, Queensland, Australia.
  • McInerney-Leo A; School of Medicine, Griffith University, Southport, Queensland, Australia.
Am J Med Genet A ; 185(1): 105-111, 2021 01.
Article de En | MEDLINE | ID: mdl-33063426
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Parents / Syndrome de Rubinstein-Taybi / Maladies rares / Retard de diagnostic Type d'étude: Diagnostic_studies / Prognostic_studies / Qualitative_research Limites: Child / Child, preschool / Female / Humans / Infant / Male Pays/Région comme sujet: Oceania Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2021 Type de document: Article Pays d'affiliation: Australie Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Parents / Syndrome de Rubinstein-Taybi / Maladies rares / Retard de diagnostic Type d'étude: Diagnostic_studies / Prognostic_studies / Qualitative_research Limites: Child / Child, preschool / Female / Humans / Infant / Male Pays/Région comme sujet: Oceania Langue: En Journal: Am J Med Genet A Sujet du journal: GENETICA MEDICA Année: 2021 Type de document: Article Pays d'affiliation: Australie Pays de publication: États-Unis d'Amérique