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Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt, Joep; Willemsen, Marjolein H; van Bon, Bregje W M; Kleefstra, Tjitske; Yntema, Helger G; Kroes, Thessa; Vulto-van Silfhout, Anneke T; Koolen, David A; de Vries, Petra; Gilissen, Christian; del Rosario, Marisol; Hoischen, Alexander; Scheffer, Hans; de Vries, Bert B A; Brunner, Han G; Veltman, Joris A; Vissers, Lisenka E L M.
Affiliation
  • de Ligt J; Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
N Engl J Med ; 367(20): 1921-9, 2012 Nov 15.
Article in En | MEDLINE | ID: mdl-23033978
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Diseases, X-Linked / Exome / Intellectual Disability / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: N Engl J Med Year: 2012 Type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Diseases, X-Linked / Exome / Intellectual Disability / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Female / Humans / Male Language: En Journal: N Engl J Med Year: 2012 Type: Article Affiliation country: Netherlands