Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders

被引:0
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作者
María Isabel Álvarez-Mora
Aurora Sánchez
Laia Rodríguez-Revenga
Jordi Corominas
Raquel Rabionet
Susana Puig
Irene Madrigal
机构
[1] IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer),Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona
[2] CIBER of Rare Diseases (CIBERER),Department of Human Genetics
[3] Radboud UMC,Department of Genetics, Microbiology and Statistics, Faculty of Biology
[4] University of Barcelona,Department of Dermatology, Hospital Clínic of Barcelona and Melanoma Unit
[5] IDIBAPS,undefined
关键词
Neurodevelopmental disorders; Whole exome sequencing; Whole genome sequencing; Genetic diagnostic; Genetic diagnostic yield;
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