Repository of Research and Investigative Information

Repository of Research and Investigative Information

Shahid Sadoughi University of Medical Sciences

Items where Author is "Dehghani, Mohammadreza"

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Number of items: 10.

Article

(2020) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta neuropathologica. pp. 415-442. ISSN 1432-0533

(2020) Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. American Journal of Medical Genetics, Part A. pp. 957-961.

(2019) Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American journal of human genetics. pp. 1048-1056. ISSN 1537-6605

(2018) Biallelic mutations in early-onset, variably progressive neurodegeneration. Neurology. e319-e330. ISSN 1526-632X

(2018) Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet journal of rare diseases. p. 86. ISSN 1750-1172

(2017) A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family. Molecular syndromology. pp. 261-265. ISSN 1661-8769

(2016) Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report. Iranian journal of public health. pp. 376-80. ISSN 2251-6085

(2016) Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. European Journal of Human Genetics. pp. 1627-1629.

(2016) A novel mutation in the OFD1 gene in a family with oral-facial-digital syndrome type 1: A case report. Iranian Journal of Public Health. pp. 1359-1366.

(2015) Genetic susceptibility to transient and permanent neonatal diabetes mellitus. International Journal of Pediatrics. pp. 1073-1081.

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