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Noncoding copy-number variations are associated with congenital limb malformation.
Flöttmann, Ricarda; Kragesteen, Bjørt K; Geuer, Sinje; Socha, Magdalena; Allou, Lila; Sowinska-Seidler, Anna; Bosquillon de Jarcy, Laure; Wagner, Johannes; Jamsheer, Aleksander; Oehl-Jaschkowitz, Barbara; Wittler, Lars; de Silva, Deepthi; Kurth, Ingo; Maya, Idit; Santos-Simarro, Fernando; Hülsemann, Wiebke; Klopocki, Eva; Mountford, Roger; Fryer, Alan; Borck, Guntram; Horn, Denise; Lapunzina, Pablo; Wilson, Meredith; Mascrez, Bénédicte; Duboule, Denis; Mundlos, Stefan; Spielmann, Malte.
Afiliação
  • Flöttmann R; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Kragesteen BK; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Geuer S; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Socha M; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Allou L; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Sowinska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Bosquillon de Jarcy L; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Wagner J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Jamsheer A; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Oehl-Jaschkowitz B; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Wittler L; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • de Silva D; Gemeinschaftspraxis für Humangenetik Homburg/Saar, Homburg, Germany.
  • Kurth I; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Maya I; Department of Physiology, Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka.
  • Santos-Simarro F; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany.
  • Hülsemann W; Institute of Human Genetics, RWTH Aachen, Aachen, Germany.
  • Klopocki E; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.
  • Mountford R; Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
  • Fryer A; U753 Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Borck G; Handchirurgie Kinderkrankenhaus Wilhelmstift, Hamburg, Germany.
  • Horn D; Institute of Human Genetics, Biocentre, University of Würzburg, Würzburg, Germany.
  • Lapunzina P; Merseyside and Cheshire Regional Molecular Genetics Laboratory, Liverpool Women's National Health Service Foundation Trust, Liverpool, UK.
  • Wilson M; Merseyside and Cheshire Regional Molecular Genetics Laboratory, Liverpool Women's National Health Service Foundation Trust, Liverpool, UK.
  • Mascrez B; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Duboule D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Mundlos S; Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
  • Spielmann M; Department of Clinical Genetics, Children's Hospital at Westmead, and Disciplines of Paediatrics and Child Health and Genetic Medicine, University of Sydney, New South Wales, Australia.
Genet Med ; 20(6): 599-607, 2018 06.
Article em En | MEDLINE | ID: mdl-29236091
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades Congênitas dos Membros / DNA Intergênico Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deformidades Congênitas dos Membros / DNA Intergênico Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Alemanha