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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh, Nicole; Mayer, Anja K; Strom, Tim M; Kohl, Susanne; Glöckle, Nicola; Schubach, Max; Andreasson, Sten; Bernd, Antje; Birch, David G; Hamel, Christian P; Heckenlively, John R; Jacobson, Samuel G; Kamme, Christina; Kellner, Ulrich; Kunstmann, Erdmute; Maffei, Pietro; Reiff, Charlotte M; Rohrschneider, Klaus; Rosenberg, Thomas; Rudolph, Günther; Vámos, Rita; Varsányi, Balázs; Weleber, Richard G; Wissinger, Bernd.
Afiliação
  • Weisschuh N; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
  • Mayer AK; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum Muenchen, Neuherberg, Germany.
  • Kohl S; Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
  • Glöckle N; CeGaT GmbH, Tuebingen, Germany.
  • Schubach M; Institute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin, Germany.
  • Andreasson S; Department of Ophthalmology, Lund University, Lund, Sweden.
  • Bernd A; University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
  • Birch DG; The Retina Foundation of the Southwest, Dallas, Texas, United States of America.
  • Hamel CP; Genetic Sensory Diseases, CHU de Montpellier, Montpellier, France.
  • Heckenlively JR; Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, United States of America.
  • Jacobson SG; Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
  • Kamme C; Department of Ophthalmology, Lund University, Lund, Sweden.
  • Kellner U; Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany.
  • Kunstmann E; Institute of Human Genetics, Julius-Maximilian-University, Wuerzburg, Germany.
  • Maffei P; Department of Medicine, University Hospital of Padua, Padua, Italy.
  • Reiff CM; Eye Center, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.
  • Rohrschneider K; Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany.
  • Rosenberg T; National Eye Clinic, Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark.
  • Rudolph G; University Eye Hospital, Ludwig Maximilians University, Munich, Germany.
  • Vámos R; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.
  • Varsányi B; Department of Ophthalmology, Semmelweis University, Budapest, Hungary.
  • Weleber RG; Department of Ophthalmology, University of Pécs Medical School, Pécs, Hungary.
  • Wissinger B; Casey Eye Institute, Oregon Retinal Degeneration Center, Oregon Health & Science University, Portland, Oregon, United States of America.
PLoS One ; 11(1): e0145951, 2016.
Article em En | MEDLINE | ID: mdl-26766544
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Retinianas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Retinianas / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Alemanha