Repository of Research and Investigative Information

Repository of Research and Investigative Information

Shahid Sadoughi University of Medical Sciences

Items where Author is "Mehrjardi, M. Y. V."

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Number of items: 31.

Article

(2024) Whole-exome sequencing revealed a novel ERCC8 variant in an Iranian large family with Cockayne syndrome. Human Gene. p. 4. ISSN 2773-0441

(2024) The association of RBX1 and BAMBI gene expression with oocyte maturation in PCOS women. Bmc Medical Genomics. p. 6.

(2023) Association of NFKB1 gene polymorphism (rs28362491) with cardiometabolic risk factor in patients undergoing coronary angiography. Journal of cardiovascular and thoracic research. pp. 161-167. ISSN 2008-5117

(2023) Interaction of dietary patterns with rs28362491 on severity of coronary artery stenosis in patients undergoing coronary angiography. Scientific Reports. p. 9. ISSN 2045-2322

(2023) Prevalence of Rs5219 and Rs5215 Polymorphisms in the Familial Type 2 Diabetic Population of Yazd Province. Iranian Journal of Diabetes and Metabolism. pp. 310-317. ISSN 23454008 (ISSN)

(2022) Biallelic variants in <i>ZNF142</i> lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109. ISSN 0009-9163

(2022) Co-segregation of variant NSUN2 Lue198Arg among Iranian family with intellectual disability: a case report. Egyptian Journal of Medical Human Genetics. p. 11. ISSN 1110-8630

(2022) Evaluation of NF1 and RASA1 gene expression in endometriosis. European Journal of Obstetrics & Gynecology and Reproductive Biology-X. p. 4. ISSN 2590-1613

(2022) Evaluation of the relationship between miR-337-3p and RAPIA gene in endometriosis. Journal of Endometriosis and Pelvic Pain Disorders. pp. 178-182. ISSN 2284-0265

(2022) Plasma miR-21 as a potential predictor in prediabetic individuals with a positive family history of type 2 diabetes mellitus. Physiological Reports. p. 9. ISSN 2051-817X

(2022) <i>GGPS1</i>-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474. ISSN 2328-9503

(2021) Bi-allelic loss-of-function variants in <i>BCAS3</i> cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. pp. 1069-1082. ISSN 0002-9297

(2020) Circulating miR-15a and miR-222 as Potential Biomarkers of Type 2 Diabetes. Diabetes Metabolic Syndrome and Obesity-Targets and Therapy. pp. 3461-3469. ISSN 1178-7007

(2020) Martsolf syndrome with novel mutation in the <i>TBC1D20</i> gene in a family from Iran. American Journal of Medical Genetics Part A. pp. 957-961. ISSN 1552-4825

(2020) A Novel <i>PCNT</i> Frame Shift Variant (c.7511delA) Causing Osteodysplastic Primordial Dwarfism of Majewski Type 2 (MOPD II). Frontiers in Pediatrics. p. 7. ISSN 2296-2360

(2020) Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the <i>FLVCR1</i> gene. Ophthalmic Genetics. pp. 90-92. ISSN 1381-6810

(2020) Testicular expression of <i>TDRD1</i>, <i>TDRD5</i>, <i>TDRD9</i> and <i>TDRD12</i> in azoospermia. BMC medical genetics. p. 7.

(2019) Exome-wide copy number variation analysis identifies a <i>COL9A1</i> in frame deletion that is associated with hearing loss. European journal of medical genetics. p. 7. ISSN 1769-7212

(2019) Homozygous Missense Variants in <i>NTNG2</i>, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics. pp. 1048-1056. ISSN 0002-9297

(2019) Is there any relationship between mutation in CPS1 Gene and pregnancy loss? International Journal of Reproductive BioMedicine. pp. 371-374. ISSN 2476-4108

(2019) MiR-181b expression levels as molecular biomarker for type 2 diabetes. Journal of Mazandaran University of Medical Sciences. pp. 195-201. ISSN 17359279 (ISSN)

(2019) A Novel Missense Mutation in the CPS1 Gene Causes arbamoyl phosphate synthetase 1 deficiency identified by next generation sequencing. European Journal of Human Genetics. pp. 1814-1815. ISSN 1018-4813

(2019) The Relationship between Mutation in <i>HOXB1</i> Gene and Acute Myeloid Leukemia. Iranian Journal of Pediatric Hematology and Oncology. pp. 229-235. ISSN 2008-8892

(2019) The Relationship between Mutation in HOXB1 Gene and Acute Myeloid Leukemia. Iranian Journal of Pediatric Hematology and Oncology. pp. 229-235. ISSN 20088892 (ISSN)

(2019) The clinical spectrum of the congenital myasthenic syndrome resulting from <i>COL13A1</i> mutations. Brain. pp. 1547-1560. ISSN 0006-8950

(2018) Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity. European journal of medical genetics. pp. 465-467. ISSN 1769-7212

(2018) Recessive mutations in <i>ATP8A2</i> cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet Journal of Rare Diseases. p. 10.

(2017) A Common Ancestral Asn242Ser Mutation in <i>TMEM</i>67 Identified in Multiple Iranian Families with Joubert Syndrome. Public health genomics. pp. 188-193. ISSN 1662-4246

(2017) The effect of HOXB1 gene Expression in HCFP patient using real time PCR assay in iranian family. Biomedical and Pharmacology Journal. pp. 825-830. ISSN 09746242 (ISSN)

(2017) <i>B3GALNT2</i> mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome medicine. p. 11. ISSN 1756-994X

(2016) Genetic screening of Congenital Short Bowel Syndrome patients confirms <i>CLMP</i> as the major gene involved in the recessive form of this disorder. European Journal of Human Genetics. pp. 1627-1629. ISSN 1018-4813

This list was generated on Wed Feb 5 13:25:03 2025 +0330.