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UnknownA common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.
Not available
S-EPMC2978979 | biostudies-literature
UnknownExome sequencing for the diagnosis of 46,XY disorders of sex development.
Not available
S-EPMC4318895 | biostudies-literature
UnknownA rare human centenarian variant of SIRT6 enhances genome stability and interaction with Lamin A
Not available
S-SCDT-EMBOJ-2021-110393 | biostudies-other
UnknownRecommendations for the integration of genomics into clinical practice.
Not available
S-EPMC5557020 | biostudies-literature
UnknownClinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Not available
S-EPMC6395558 | biostudies-literature
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