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Publications by Masoud Garshasbi

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

American Journal of Human Genetics

English

A Novel ISCA2 Variant Responsible for an Early-Onset Neurodegenerative Mitochondrial Disorder: A Case Report of Multiple Mitochondrial Dysfunctions Syndrome 4

English

Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Molecular genetics & genomic medicine

Molecular Biology

English

Identification of a Nonsense Mutation in the Very Low-Density Lipoprotein Receptor Gene (VLDLR) in an Iranian Family With Dysequilibrium Syndrome

European Journal of Human Genetics

English

An Autosomal Recessive Syndrome of Severe Mental Retardation, Cataract, Coloboma and Kyphosis Maps to the Pericentromeric Region of Chromosome 4

European Journal of Human Genetics

English