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Das, Soma
One or more keywords matched the following items that are connected to
Das, Soma
Item Type
Name
Concept
Genetic Carrier Screening
Concept
Heterozygote
Academic Article
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Academic Article
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Academic Article
Phenotypic spectrum associated with CASK loss-of-function mutations.
Academic Article
Disclosure of genetic research results to members of a founder population.
Academic Article
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Academic Article
Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay.
Academic Article
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Search Criteria
Heterozygote