Items where Author is "Nouri, N."

Article

(2022) A novel NR0B1 mutation correlated with X-linked adrenal hypoplasia congenital (AHC). GENE REPORTS. ISSN 2452-0144 J9 - GENE REP

(2021) Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy. EPILEPSY RESEARCH. ISSN 0920-1211 1872-6844 J9 - EPILEPSY RES

(2021) Lack of association between c1236t, g2677t/a and c3435t variants of the abcb1 gene and imatinib response in iranian chronic myeloid leukemia patients. Journal of Sciences, Islamic Republic of Iran. pp. 121-130. ISSN 10161104 (ISSN)

(2018) Decline in peripheral blood NKG2D+CD3+CD56+NKT cells in metastatic colorectal cancer patients. Bratislava Medical Journal-Bratislavske Lekarske Listy. pp. 6-11. ISSN 0006-9248

(2018) An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. British Journal of Dermatology. E265-E267. ISSN 0007-0963

(2017) Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations. Journal of Medical Ethics and History of Medicine. ISSN 2008-0387

(2016) Genomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer families. Journal of Research in Medical Sciences. ISSN 1735-1995

(2016) Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway. Archives of Oral Biology. pp. 79-82. ISSN 0003-9969

(2016) Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate. Advanced biomedical research. p. 201. ISSN 2277-9175 (Print) 2277-9175 (Linking)

(2016) Reciprocal 22q11.2 deletion and duplication in siblings with karyotypically normal parents. Cytogenetic and Genome Research. pp. 1-5. ISSN 14248581 (ISSN)

(2015) Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1. Journal of Child Neurology. pp. 558-562. ISSN 0883-0738

(2015) Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population. Clinical Oral Investigations. pp. 891-894. ISSN 1432-6981

(2015) Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation. Gene. pp. 150-152. ISSN 0378-1119

(2015) Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication. Genetics Research International. ISSN 2090-3154

(2015) Significant association between nonsyndromic cleft lip with or without cleft palate and IRF6rs2235371 polymorphism in Iranian familiar population. Molecular Biology. pp. 848-851. ISSN 0026-8933

(2015) Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family. Journal of Gastrointestinal and Liver Diseases. pp. 523-526. ISSN 1841-8724

(2015) Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. Human genome variation. p. 15034. ISSN 2054-345X (Print) 2054-345X (Linking)