Items where Author is "Pourreza, Mohammad Reza"

(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 pathogenic variant in the transforming growth factor beta I ( TGFBI ) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review. Iranian Journal of Basic Medical Sciences. pp. 1020-1027. ISSN 2008-3866

(2019) Molecular genetic study of glutaric aciduria, type I: Identification of a novel mutation. JOURNAL OF CELLULAR BIOCHEMISTRY. ISSN 1097-4644 (Electronic) 0730-2312 (Linking)

(2019) Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred. Int J Pediatr Otorhinolaryngol. pp. 99-105. ISSN 1872-8464 (Electronic) 0165-5876 (Linking)

(2018) Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper. Adv Biomed Res. p. 141. ISSN 2277-9175 (Print) 2277-9175 (Linking)

(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

(2018) Genetic study of the BRAF gene reveals new variants and high frequency of the V600E mutation among Iranian ameloblastoma patients. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology. pp. 86-90. ISSN 1600-0714 (Electronic) 0904-2512 (Linking)

(2018) A Novel Pathologic Variant in OTOF in an Iranian Family Segregating Hereditary Hearing Loss. Otolaryngology-Head and Neck Surgery. pp. 1084-1092. ISSN 0194-5998

(2017) A Report of a Novel Mutation in Human Prostacyclin Receptor Gene in Patients Affected with Migraine. Iranian journal of psychiatry. pp. 219-222. ISSN 1735-4587 (Print) 1735-4587 (Linking)

(2017) A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred. Journal of Dermatological Science. pp. 134-138. ISSN 0923-1811