Home
About
Overview
Sharing Data
ORCID
Help
History (6)
Characteristics and correlates of stealing in college students.
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
Principal Investigator
Temporal Evolution and Outcomes of Non-Traumatic Intracerebral Hemorrhage in Hospitalized Patients.
PRKDC mutations in a SCID patient with profound neurological abnormalities.
See All 6 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
PRKDC mutations in a SCID patient with profound neurological abnormalities.
PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest. 2013 Jul; 123(7):2969-80.
View in:
PubMed
subject areas
Abnormalities, Multiple
Amino Acid Sequence
Base Sequence
Brain
Cell Line
Child, Preschool
Conserved Sequence
DNA Mutational Analysis
DNA Repair
DNA-Activated Protein Kinase
Fatal Outcome
Genetic Association Studies
Humans
Male
Microcephaly
Molecular Diagnostic Techniques
Molecular Sequence Data
Mutation, Missense
Nuclear Proteins
Point Mutation
Severe Combined Immunodeficiency
authors with profiles
William B. Dobyns