Items where Author is "Narrei, S."

Article

(2024) Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia. Bmc Medical Genomics. p. 10.

(2024) Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family. Egyptian Journal of Medical Human Genetics. p. 8. ISSN 1110-8630

(2023) A Novel Germline Pathogenic Variant of <i>RECQL4</i> Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report. Iranian Journal of Medical Sciences. pp. 420-424. ISSN 0253-0716

(2023) Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation. Plos One. p. 17. ISSN 1932-6203

(2022) Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. Neuromuscul Disord. ISSN 0960-8966

(2022) Whole exome sequencing identified a novel<i> LAMA2</i> frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. Neuromuscular Disorders. pp. 776-784. ISSN 0960-8966

(2022) Whole-Exome Sequencing Identifies a Recurrent Small In-Frame Deletion in MYO15A Causing Autosomal Recessive Nonsyndromic Hearing Loss in 3 Iranian Pedigrees. Lab Med. pp. 111-122. ISSN 0007-5027

(2021) Trends of human brucellosis in Central Iran (2010-2018). JOURNAL OF RESEARCH IN MEDICAL SCIENCES. ISSN 1735-1995 1735-7136 J9 - J RES MED SCI

(2020) Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss. Molecular Biology Reports. pp. 5355-5364. ISSN 0301-4851

(2020) A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Bmc Medical Genetics.

(2019) Epigenetics and Common Non Communicable Disease. Adv Exp Med Biol. pp. 7-20. ISSN 0065-2598 (Print) 0065-2598

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