Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.

Likar, Tina; Hasanhodzic, Mensuda; Teran, Natasa; Maver, Ales; Peterlin, Borut; Writzl, Karin

Likar, Tina; Hasanhodzic, Mensuda; Teran, Natasa; Maver, Ales; Peterlin, Borut; Writzl, Karin.

Afiliação

Likar T; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Hasanhodzic M; Policlinic of Medical Genetics with Genetic Counseling for Out-Patient Care, Department of Paediatrics, University Clinical Centre Tuzla, Tuzla, Bosnia and Herzegovina.
Teran N; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Maver A; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Peterlin B; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Writzl K; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

PLoS One ; 13(1): e0188578, 2018.

Article em En | MEDLINE | ID: mdl-29293505

Assuntos

Sequenciamento do Exoma; Perda Auditiva/genética; Adolescente; Adulto; Criança; Pré-Escolar; Feminino; Genótipo; Perda Auditiva/diagnóstico; Humanos; Masculino; Fenótipo; Síndrome; Adulto Jovem

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google