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Publications by Michaela Omelková

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

European Journal of Human Genetics

English

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

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

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Functional Expression of O -Linked GlcNAc Transferase

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

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Mitochondrial and Nucleocytoplasmic Targeting of O-Linked GlcNAc Transferase

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Microcephaly-Deafness-Intellectual Disability Syndrome

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Macrocephaly-Intellectual Disability-Autism Syndrome

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Pachygyria-Intellectual Disability-Epilepsy Syndrome

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Metabolic Syndrome and Intellectual Disability

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