Associated Papers
The evolving role of whole-exome sequencing in the management of disorders of sex development.
Tenenbaum-Rakover Y et al.
Endocrine Connections, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Balasubramanian M et al.
European Journal of Human Genetics : Ejhg, 2021
Three rare disease diagnoses in one patient through exome sequencing.
Ferrer A et al.
Cold Spring Harbor Molecular Case Studies, 2019
Select a paper to view details