Harvard Catalyst Profiles
Contact, publication, and social network information about Harvard faculty and fellows.
Open Source Software
to edit your profile (add a photo, awards, links to other websites, etc.)
Edit My Profile
My Person List (
Return to Top
Search Result Details
Back to Search Results
This page shows the details of why an item matched the keywords from your search.
One or more keywords matched the following items that are connected to
3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.
Genomic analysis of primordial dwarfism reveals novel disease genes.
Molecular and clinical spectra of FBXL4 deficiency.
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Further delineation of HIDEA syndrome.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.