Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Hannah M. Stephen

An Intellectual Disability Syndrome With Single-Nucleotide Variants in O-GlcNAc Transferase

European Journal of Human Genetics

English

Related publications

Catalytic Deficiency of O-GlcNAc Transferase Leads to X-Linked Intellectual Disability

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

X-Inactivation Normalizes O-GlcNAc Transferase Levels and Generates an O-GlcNAc-Depleted Barr Body

Frontiers in Genetics

Molecular Medicine

English

Functional Expression of O -Linked GlcNAc Transferase

Journal of Biological Chemistry

Molecular Biology

English

O-Linked N-Acetylglucosamine (GlcNAc) Transferase (OGT)

Science-Business eXchange

English

Mitochondrial and Nucleocytoplasmic Targeting of O-Linked GlcNAc Transferase

Journal of Cell Science

English

Microcephaly-Deafness-Intellectual Disability Syndrome

English

Macrocephaly-Intellectual Disability-Autism Syndrome

English

Pachygyria-Intellectual Disability-Epilepsy Syndrome

English

Metabolic Syndrome and Intellectual Disability

British Journal of Psychiatry

English