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Joubert syndrome: genotyping a Northern European patient cohort.
Kroes, Hester Y; Monroe, Glen R; van der Zwaag, Bert; Duran, Karen J; de Kovel, Carolien G; van Roosmalen, Mark J; Harakalova, Magdalena; Nijman, Ies J; Kloosterman, Wigard P; Giles, Rachel H; Knoers, Nine V A M; van Haaften, Gijs.
Afiliação
  • Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Monroe GR; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van der Zwaag B; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Duran KJ; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • de Kovel CG; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Roosmalen MJ; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Harakalova M; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Nijman IJ; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Kloosterman WP; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Giles RH; Department of Nephrology and Hypertension, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Knoers NV; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Haaften G; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Eur J Hum Genet ; 24(2): 214-20, 2016 Feb.
Article em En | MEDLINE | ID: mdl-25920555
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Doenças Renais Císticas / Patologia Molecular / Aconselhamento Genético Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Doenças Renais Císticas / Patologia Molecular / Aconselhamento Genético Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda