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Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.
Basharat, Rabia; Rodenburg, Kim; Rodríguez-Hidalgo, María; Jarral, Afeefa; Ullah, Ehsan; Corominas, Jordi; Gilissen, Christian; Zehra, Syeda Tatheer; Hameed, Usman; Ansar, Muhammad; de Bruijn, Suzanne E.
Afiliación
  • Basharat R; Department of Biochemistry, Quaid-i-Azam University, Islamabad 45320, Pakistan.
  • Rodenburg K; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
  • Rodríguez-Hidalgo M; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
  • Jarral A; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
  • Ullah E; Department of Neuroscience, Biodonostia Health Research Institute, 20014 Donostia-San Sebastián, Spain.
  • Corominas J; Department of Biotechnology, Mirpur University of Science and Technology (MUST), Mirpur 10250, AJK, Pakistan.
  • Gilissen C; Department of Biochemistry, Quaid-i-Azam University, Islamabad 45320, Pakistan.
  • Zehra ST; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Hameed U; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
  • Ansar M; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
  • de Bruijn SE; Department of Biochemistry, Quaid-i-Azam University, Islamabad 45320, Pakistan.
Genes (Basel) ; 14(8)2023 08 01.
Article en En | MEDLINE | ID: mdl-37628625
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anoftalmos / Anomalías del Ojo / Microftalmía Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anoftalmos / Anomalías del Ojo / Microftalmía Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Genes (Basel) Año: 2023 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Suiza