Items where Author is "Noori-Daloii, M. R."

(2020) Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report. Bmc Medical Genetics.

(2020) Homozygosity mapping and direct sequencing identify a novel pathogenic variant in the CISD2 gene in an Iranian Wolfram syndrome family. Acta Diabetol. pp. 81-87. ISSN 1432-5233 (Electronic) 0940-5429 (Linking)

(2020) A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23. Audiology and Neuro-Otology. pp. 258-262. ISSN 1420-3030

(2020) Upregulation ofMTOR,RPS6KB1, andEIF4EBP1in the whole blood samples of Iranian patients with multiple sclerosis compared to healthy controls. Metabolic Brain Disease. pp. 1309-1316. ISSN 0885-7490

(2019) Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome. Endocrine. pp. 185-191. ISSN 1355-008X

(2019) A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family. Audiology and Neuro-Otology. pp. 258-263. ISSN 1420-3030

(2019) Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations. Iranian Journal of Public Health. pp. 1704-1713. ISSN 2251-6085

(2018) GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants. International Journal of Pediatric Otorhinolaryngology. pp. 121-126. ISSN 0165-5876

(2017) A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred. Molecular Syndromology. pp. 195-200. ISSN 1661-8769

(2017) SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis. International Journal of Pediatric Otorhinolaryngology. pp. 122-126. ISSN 0165-5876

(2015) Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations. Gene. pp. 302-307. ISSN 0378-1119

(2015) A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family. International Journal of Pediatric Otorhinolaryngology. pp. 1736-1740. ISSN 0165-5876