The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.

de Bruijn, Suzanne E; Fadaie, Zeinab; Cremers, Frans P M; Kremer, Hannie; Roosing, Susanne

de Bruijn, Suzanne E; Fadaie, Zeinab; Cremers, Frans P M; Kremer, Hannie; Roosing, Susanne.

Afiliação

de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Fadaie Z; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Kremer H; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Roosing S; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.

Int J Mol Sci ; 22(6)2021 Mar 14.

Article em En | MEDLINE | ID: mdl-33799353

Assuntos

Proteínas do Olho/genética; Perda Auditiva/diagnóstico; Patologia Molecular; Distrofias Retinianas/diagnóstico; Heterogeneidade Genética; Perda Auditiva/genética; Perda Auditiva/patologia; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Mutação/genética; Distrofias Retinianas/genética; Distrofias Retinianas/patologia

Palavras-chave

diagnostic yield; genetic diagnostics; inherited hearing loss; inherited retinal dystrophies; next-generation sequencing; third-generation sequencing; variant interpretation

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas do Olho / Patologia Molecular / Distrofias Retinianas / Perda Auditiva Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda

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