Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Items where Author is "Mahdieh, N."

Mon Jul 22 11:55:06 2024
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(2023) Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry. Neurogenetics. ISSN 1364-6753 (Electronic) 1364-6745 (Linking)

(2023) Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry (neurogenetics, (2023), 10.1007/s10048-023-00730-y). Neurogenetics. ISSN 13646745 (ISSN)

(2023) High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry. Neurogenetics. p. 11. ISSN 1364-6745

(2021) HBB mutations and HbA2 level: Escaping the carrier screening programs. Clinical Case Reports. pp. 973-977. ISSN 2050-0904

(2016) GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution. European Archives of Oto-Rhino-Laryngology. pp. 1161-1165. ISSN 0937-4477

(2015) An overview on thalassemia: Genetics of beta thalassemia in Iran. Koomesh. pp. 1-17. ISSN 16087046 (ISSN)

(2014) A Case-Control Study on the Association of Common Variants of CAPN10 Gene and the Risk of Type 2 Diabetes in an Iranian Population. Clinical Laboratory. pp. 663-670. ISSN 1433-6510

(2014) Cystic fibrosis and distribution and mutation analysis of CFTR gene in iranian patients. Koomesh. pp. 431-440. ISSN 16087046 (ISSN)

(2014) The promise of whole-exome sequencing in medical genetics. Journal of Human Genetics. pp. 5-15. ISSN 1434-5161

(2013) Correction: Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. (PLoS ONE). Plos One. ISSN 19326203 (ISSN)

(2013) A Novel PCBD Gene Mutation in an Iranian Patient with Hyperphenylalaninemia. Clinical Laboratory. pp. 925-928. ISSN 1433-6510

(2013) An Overview of Mutation Detection Methods in Genetic Disorders. Iranian Journal of Pediatrics. pp. 375-388. ISSN 2008-2142

(2012) 21-Hydroxylase Deficiency: Newborn Screening in Iran? Iranian Journal of Pediatrics. pp. 279-280. ISSN 2008-2142

(2012) A Girl with 45,X/46,XX Turner Syndrome and Salt Wasting Form of Congenital Adrenal Hyperplasia Due to Regulatory Changes. Clinical Laboratory. pp. 1063-1066. ISSN 1433-6510

(2012) In silico structural, functional and pathogenicity evaluation of a novel mutation: An overview of HSD3B2 gene mutations. Gene. pp. 215-221. ISSN 0378-1119

(2012) Mutation Analysis of the CYP21A2 Gene in the Iranian Population. Genetic Testing and Molecular Biomarkers. pp. 82-90. ISSN 1945-0265

(2012) Screening of OTOF mutations in Iran: A novel mutation and review. International Journal of Pediatric Otorhinolaryngology. pp. 1610-1615. ISSN 0165-5876

(2011) Impact of Consanguineous Marriages in GJB2-Related Hearing Loss in the Iranian Population: A Report of a Novel Variant. Genetic Testing and Molecular Biomarkers. pp. 489-493. ISSN 1945-0265

(2011) Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene. Iranian Journal of Pediatrics. pp. 139-150. ISSN 2008-2142

(2009) Statistical study of 35delG mutation of GJB2 gene: A meta-analysis of carrier frequency. International Journal of Audiology. pp. 363-370. ISSN 1499-2027

This list was generated on Mon Jul 22 08:59:17 2024 +0330.