Repository of Research and Investigative Information

Repository of Research and Investigative Information

Shahid Sadoughi University of Medical Sciences

Items where Author is "Maroofian, Reza"

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | No Grouping
Jump to: Article
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

(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) B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome medicine. p. 118. ISSN 1756-994X

(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

(2017) Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy. European journal of medical genetics. ISSN 1878-0849

(2017) A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. Public health genomics. pp. 188-193. ISSN 1662-8063

(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.

This list was generated on Wed Feb 5 13:30:56 2025 +0330.