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Das, Soma
One or more keywords matched the following items that are connected to
Das, Soma
Item Type
Name
Concept
Epilepsy
Concept
Genetics, Medical
Academic Article
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations.
Academic Article
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
Academic Article
Exome sequencing and the genetics of intellectual disability.
Academic Article
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Academic Article
CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article
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.
Academic Article
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Search Criteria
Epilepsy
genetics