Items where Author is "Sedghi, Maryam"

(2020) Understanding the impact of DIS3 cancer-associated mutations by in silico structure modeling. Gene Reports.

(2019) Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome. Iranian Journal of Child Neurology. pp. 25-34. ISSN 1735-4668

(2019) Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study. Annals of Clinical and Translational Neurology. pp. 2197-2204. ISSN 2328-9503

(2018) Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. Neurol Genet. e295. ISSN 2376-7839 (Print) 2376-7839 (Linking)

(2018) Study of prenatal screening tests in pregnant women and comparison with fetal karyotype results. Iranian Journal of Obstetrics, Gynecology and Infertility. pp. 22-28. ISSN 16802993 (ISSN)

(2018) A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features. Journal of Human Genetics. pp. 487-491. ISSN 1434-5161

(2017) Association of AHSG with alopecia and mental retardation (APMR) syndrome. Human Genetics. pp. 287-296. ISSN 0340-6717

(2017) Evaluation of the coronary angiography results in patients referred to cardiac centers in Isfahan City, Iran. Journal of Isfahan Medical School. pp. 1-6. ISSN 10277595 (ISSN)

(2017) Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children with Severely Intractable Seizure. Iranian Journal of Child Neurology. pp. 19-26. ISSN 1735-4668