De novo variants in

Bina, Roya

De novo variants in [electronic resource] - Journal of medical genetics 07 2020 - 461-465 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural

1468-6244

10.1136/jmedgenet-2019-106193 doi


Adolescent
Agenesis of Corpus Callosum--genetics
Brain--diagnostic imaging
Cell Cycle Proteins--genetics
Child
Child, Preschool
Corpus Callosum--physiopathology
Exome--genetics
Female
Genetic Predisposition to Disease
Humans
Intellectual Disability--genetics
Male
Mutation, Missense--genetics
Neurodevelopmental Disorders--genetics
Seizures--genetics
Transcription Factors--genetics
Exome Sequencing