Associated Papers
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Unique phenotype in a patient with CHARGE syndrome.
Jain S et al.
International Journal of Pediatric Endocrinology, 2011
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Bartels CF et al.
Genetic Testing and Molecular Biomarkers, 2010
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