Search Results
Article
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
January 01, 2019
Article
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features
October 01, 2018
Article
Characteristics of undiagnosed diseases network applicants: Implications for referring providers
August 22, 2018
Article
Psychosocial profiles of parents of children with undiagnosed diseases: Managing well or just managing?
August 01, 2018
Article
Severe cardiac involvement is rare in patients with late-onset Pompe disease and the common c.-32-13T > G variant: Implications for newborn screening
July 01, 2018
Article
Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation
February 01, 2018
Article
Participant-partners in genetic research: An exome study with families of children with unexplained medical conditions
January 30, 2018