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Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin, Rebekkah J; Dhaenens, Claire-Marie; Panneman, Daan M; Corradi, Zelia; Khan, Mubeen; den Hollander, Anneke I; Farrar, G Jane; Gilissen, Christian; Hoischen, Alexander; van de Vorst, Maartje; Bults, Femke; Boonen, Erica G M; Saunders, Patrick; Roosing, Susanne; Cremers, Frans P M.
Affiliation
  • Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Dhaenens CM; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Panneman DM; Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, Univ. Lille, Lille, France.
  • Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Khan M; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • den Hollander AI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Farrar GJ; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoischen A; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van de Vorst M; The School of Genetics & Microbiology, The University of Dublin Trinity College, Dublin, Ireland.
  • Bults F; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Boonen EGM; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Saunders P; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Roosing S; Department of Internal Medicine, Radboud University Medical Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.
  • Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Hum Mutat ; 43(12): 2234-2250, 2022 12.
Article in En | MEDLINE | ID: mdl-36259723
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: High-Throughput Nucleotide Sequencing / Macular Degeneration Type of study: Health_economic_evaluation / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Países Bajos
Fulltext
Add to My VHL
Print
XML
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: High-Throughput Nucleotide Sequencing / Macular Degeneration Type of study: Health_economic_evaluation / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Document type: Article Affiliation country: Países Bajos