Isfahan University of Medical Sciences
Items where Division is "Research Institute for Primordial Prevention of Non-communicable Disease > Pediatric Inherited Diseases Research Center" and Year is 2019
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Article
(2019) Targeting MCF-7 Cell Line by Listeriolysin O Pore Forming Toxin Fusion with AHNP Targeted Peptide. Adv Biomed Res. p. 33. ISSN 2277-9175 (Print) 2277-9175 (Linking)
(2019) Clinical Feature and Genetics in Rett Syndrome: A Report on Iranian Patients. Iranian Journal of Child Neurology. pp. 37-51. ISSN 1735-4668
(2019) Correlations between the expression of hTERT and alpha and beta splice variants in human brain tumors. Advances in Clinical and Experimental Medicine. pp. 507-513. ISSN 1899-5276
(2019) A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis. Iranian Journal of Child Neurology. pp. 173-183. ISSN 1735-4668
(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
(2019) Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran. Adv Biomed Res. p. 55. ISSN 2277-9175 (Print) 2277-9175 (Linking)
(2019) Evidence for expression of promoterless GFP cassette: Is GFP an ideal reporter gene in biotechnology science? Research in Pharmaceutical Sciences. pp. 351-358. ISSN 1735-5362
(2019) Novel Variants and Copy Number Variation in CDH1 Gene in Iranian Patients with Sporadic Diffuse Gastric Cancer. Journal of Gastrointestinal Cancer. pp. 420-427. ISSN 1941-6628
(2019) The MTHFR C677T polymorphism influences the efficacy of folic acid supplementation on the nerve conduction studies in patients with diabetic polyneuropathy; A randomized, double blind, placebo-controlled study. Journal of Research in Medical Sciences. ISSN 1735-1995
(2019) Association Between BMI and Inflammation Among Diabetic Polyneuropathy Patients. Int J Prev Med. p. 212. ISSN 2008-7802 (Print) 2008-7802 (Linking)
(2019) A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family. Int J Audiol. pp. 1-7. ISSN 1708-8186 (Electronic) 1499-2027 (Linking)
(2019) MDA-7/interleukin 24 (IL-24) in tumor gene therapy: application of tumor penetrating/homing peptides for improvement of the effects. Expert Opinion on Biological Therapy. pp. 211-223. ISSN 1471-2598
(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)
(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) Engineered zinc-finger nuclease to generate site-directed modification in the KLF1 gene for fetal hemoglobin induction. JOURNAL OF CELLULAR BIOCHEMISTRY. ISSN 1097-4644 (Electronic) 0730-2312 (Linking)
(2019) Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome. Endocrine. pp. 185-191. ISSN 1355-008X
(2019) A Patient with Trisomy 4p and Monosomy 10q. Arch Iran Med. pp. 414-417. ISSN 1735-3947 (Electronic) 1029-2977 (Linking)
(2019) The First Report of a Patient with Trisomy 4p and Monosomy 10q. Archives of Iranian Medicine. pp. 414-417. ISSN 1029-2977
(2019) A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Genomics. pp. 840-848. ISSN 0888-7543
(2019) Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing. Audiology and Neuro-Otology. pp. 25-31. ISSN 1420-3030
Book Section
(2019) Epigenetics and Common Non Communicable Disease. In: Primordial Prevention of Non Communicable Disease. Advances in Experimental Medicine and Biology, 1121 . Springer International Publishing Ag, Cham, pp. 7-20. ISBN 978-3-030-10616-4; 978-3-030-10615-7