Items where Author is "Nouri, N."

Article

(2025) Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. Genome medicine. p. 38. ISSN 1756-994X (Electronic) 1756-994X (Linking)

(2025) Hypoxia signaling in cancer: HIF-1α stimulated by COVID-19 can lead to cancer progression and chemo-resistance in oral squamous cell carcinoma (OSCC). Discover Oncology. p. 17.

(2024) Anaphylactic reaction to tranexamic acid infusion in a six-year-old child: a case report. International Journal of Emergency Medicine. p. 5. ISSN 1865-1372

(2024) Antiepileptic Medication-induced Severe Cutaneous Adverse Reactions in Hospitalized Children: A Retrospective Study. Iranian Journal of Allergy Asthma and Immunology. pp. 139-148. ISSN 1735-1502

(2024) Biallelic variants in BRF2 are associated with craniofacial anomalies and cognitive impairment. European Journal of Human Genetics. p. 61. ISSN 1018-4813

(2024) Biallelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. European Journal of Human Genetics. p. 1540. ISSN 1018-4813

(2024) Complicated iatrogenic Cushing's syndrome induced by topical clobetasol propionate in a child with psoriasis: a case report and review of the literature. Journal of Medical Case Reports. p. 7.

(2023) Administration of stem cells against cardiovascular diseases with a focus on molecular mechanisms: Current knowledge and prospects. Tissue & Cell. p. 13. ISSN 0040-8166

(2023) Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy. European journal of human genetics : EJHG. pp. 97-104. ISSN 1476-5438 (Electronic) 1018-4813 (Print) 1018-4813 (Linking)

(2023) Effects of <i>ABCG2</i> C421A and <i>ABCG2</i> G34A genetic polymorphisms on clinical outcome and response to imatinib mesylate, in Iranian chronic myeloid leukemia patients. Egyptian Journal of Medical Human Genetics. p. 7. ISSN 1110-8630

(2023) Effects of ABCG2 C421A and ABCG2 G34A genetic polymorphisms on clinical outcome and response to imatinib mesylate, in Iranian chronic myeloid leukemia patients. Egyptian Journal of Medical Human Genetics. ISSN 11108630 (ISSN)

(2023) Sun protection behaviors among children aged 6-18 years old, the role of socioeconomic factors: A cross-sectional study. Health Science Reports. p. 7.

(2023) Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only. Biomolecules. p. 14.

(2023) The importance of personalized medicine in chronic myeloid leukemia management: a narrative review. Egyptian Journal of Medical Human Genetics. p. 21. ISSN 1110-8630

(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)