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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Bauwens, Miriam; Garanto, Alejandro; Sangermano, Riccardo; Naessens, Sarah; Weisschuh, Nicole; De Zaeytijd, Julie; Khan, Mubeen; Sadler, Françoise; Balikova, Irina; Van Cauwenbergh, Caroline; Rosseel, Toon; Bauwens, Jim; De Leeneer, Kim; De Jaegere, Sarah; Van Laethem, Thalia; De Vries, Meindert; Carss, Keren; Arno, Gavin; Fakin, Ana; Webster, Andrew R; de Ravel de l'Argentière, Thomy J L; Sznajer, Yves; Vuylsteke, Marnik; Kohl, Susanne; Wissinger, Bernd; Cherry, Timothy; Collin, Rob W J; Cremers, Frans P M; Leroy, Bart P; De Baere, Elfride.
Afiliação
  • Bauwens M; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Garanto A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Sangermano R; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Naessens S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Weisschuh N; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • De Zaeytijd J; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Khan M; Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
  • Sadler F; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Balikova I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Van Cauwenbergh C; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rosseel T; Molecular Genetics Laboratory, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany.
  • Bauwens J; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • De Leeneer K; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • De Jaegere S; Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Van Laethem T; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • De Vries M; Department of Computer Science, Free University of Brussels, Brussels, Belgium.
  • Carss K; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Arno G; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Fakin A; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
  • Webster AR; Department of Ophthalmology, Hôpital des Enfants Reine Fabiola, Brussels, Belgium.
  • de Ravel de l'Argentière TJL; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, UK.
  • Sznajer Y; UK NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
  • Vuylsteke M; UCL Institute of Ophthalmology, London, UK.
  • Kohl S; UCL Institute of Ophthalmology, London, UK.
  • Wissinger B; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Cherry T; UCL Institute of Ophthalmology, London, UK.
  • Collin RWJ; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
  • Cremers FPM; Center for Human Genetics, KU Leuven and UZ Leuven, Leuven, Belgium.
  • Leroy BP; Centre de Génétique Humaine, Cliniques Universitaires St. Luc, Université Catholique de Louvain, Brussels, Belgium.
  • De Baere E; GNOMIXX ltd, Statistics for Genomics, Melle, Belgium.
Genet Med ; 21(8): 1761-1771, 2019 08.
Article em En | MEDLINE | ID: mdl-30670881
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligonucleotídeos Antissenso / Transportadores de Cassetes de Ligação de ATP / Distrofias Retinianas / Genes Recessivos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Oligonucleotídeos Antissenso / Transportadores de Cassetes de Ligação de ATP / Distrofias Retinianas / Genes Recessivos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Bélgica