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Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Sribudiani, Yunia; Chauhan, Rajendra K; Alves, Maria M; Petrova, Lucy; Brosens, Erwin; Harrison, Colin; Wabbersen, Tara; de Graaf, Bianca M; Rügenbrink, Tim; Burzynski, Grzegorz; Brouwer, Rutger W W; van IJcken, Wilfred F J; Maas, Saskia M; de Klein, Annelies; Osinga, Jan; Eggen, Bart J L; Burns, Alan J; Brooks, Alice S; Shepherd, Iain T; Hofstra, Robert M W.
Afiliación
  • Sribudiani Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Biomedical Sciences, Division of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia.
  • Chauhan RK; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Alves MM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Petrova L; Department of Biology, Emory University, Atlanta, Georgia.
  • Brosens E; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Harrison C; Department of Biology, Emory University, Atlanta, Georgia.
  • Wabbersen T; Department of Biology, Emory University, Atlanta, Georgia.
  • de Graaf BM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Rügenbrink T; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Burzynski G; Department of Biology, Emory University, Atlanta, Georgia.
  • Brouwer RWW; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • van IJcken WFJ; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Maas SM; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • de Klein A; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Osinga J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Eggen BJL; Department of Neuroscience, Section Medical Physiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
  • Burns AJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands; Neural Development and Gastroenterology Units, UCL Institute of Child Health, London, UK.
  • Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Shepherd IT; Department of Biology, Emory University, Atlanta, Georgia.
  • Hofstra RMW; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands; Neural Development and Gastroenterology Units, UCL Institute of Child Health, London, UK. Electronic address: r.hofstra@erasmusmc.nl.
Gastroenterology ; 155(1): 118-129.e6, 2018 07.
Article en En | MEDLINE | ID: mdl-29601828
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Adaptadoras Transductoras de Señales / Proteínas Proto-Oncogénicas c-ret / Factor Neurotrófico Derivado de la Línea Celular Glial / Proteínas Hedgehog / Proteína Gli3 con Dedos de Zinc / Enfermedad de Hirschsprung / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Gastroenterology Año: 2018 Tipo del documento: Article País de afiliación: Indonesia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Adaptadoras Transductoras de Señales / Proteínas Proto-Oncogénicas c-ret / Factor Neurotrófico Derivado de la Línea Celular Glial / Proteínas Hedgehog / Proteína Gli3 con Dedos de Zinc / Enfermedad de Hirschsprung / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Female / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Gastroenterology Año: 2018 Tipo del documento: Article País de afiliación: Indonesia