Home
About
Overview
Sharing Data
ORCID
Help
History (25)
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.
Proteoglycans in brain development.
Prevalence of bowel symptoms in women with pelvic floor disorders.
Genotype-phenotype correlation at codon 1740 of SETD2.
See All 25 Pages
Find People
Find Everything
Login
to edit your profile (add a photo, awards, links to other websites, etc.)
Edit My Profile
My Person List (
0
)
Return to Top
Genotype-phenotype correlation at codon 1740 of SETD2.
Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 09; 182(9):2037-2048.
View in:
PubMed
subject areas
Child
Child, Preschool
Codon
Epigenesis, Genetic
Female
Genetic Association Studies
Genetic Predisposition to Disease
Histone-Lysine N-Methyltransferase
Humans
Infant
Intellectual Disability
Loss of Function Mutation
Male
Mutation, Missense
Nervous System Malformations
Neurodevelopmental Disorders
Tubulin
authors with profiles
William B. Dobyns