Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Haer-Wigman, Lonneke; den Ouden, Amber; van Genderen, Maria M; Kroes, Hester Y; Verheij, Joke; Smailhodzic, Dzenita; Hoekstra, Attje S; Vijzelaar, Raymon; Blom, Jan; Derks, Ronny; Tjon-Pon-Fong, Menno; Yntema, Helger G; Nelen, Marcel R; Vissers, Lisenka E L M; Lugtenberg, Dorien; Neveling, Kornelia

Haer-Wigman, Lonneke; den Ouden, Amber; van Genderen, Maria M; Kroes, Hester Y; Verheij, Joke; Smailhodzic, Dzenita; Hoekstra, Attje S; Vijzelaar, Raymon; Blom, Jan; Derks, Ronny; Tjon-Pon-Fong, Menno; Yntema, Helger G; Nelen, Marcel R; Vissers, Lisenka E L M; Lugtenberg, Dorien; Neveling, Kornelia.

Afiliação

Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl.
den Ouden A; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl.
van Genderen MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Kroes HY; Bartiméus Diagnostic Center for complex visual disorders, Zeist, The Netherlands.
Verheij J; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Smailhodzic D; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Hoekstra AS; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Vijzelaar R; Bartiméus Diagnostic Center for complex visual disorders, Zeist, The Netherlands.
Blom J; The Rotterdam Eye Hospital, Rotterdam, 3011 BH, The Netherlands.
Derks R; MRC Holland b v, Amsterdam, The Netherlands.
Tjon-Pon-Fong M; MRC Holland b v, Amsterdam, The Netherlands.
Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Nelen MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Lugtenberg D; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

NPJ Genom Med ; 7(1): 65, 2022 Nov 09.

Article em En | MEDLINE | ID: mdl-36351915

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: NPJ Genom Med Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido

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