1,031 results on '"Najmabadi, Hossein"'
Search Results
2. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
3. Genetic etiology of hearing loss in Iran
4. Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery
5. Identification of microRNAs associated with human fragile X syndrome using next-generation sequencing
6. The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
7. NGLY1 deficiency: Novel variants and literature review
8. ARHGEF9 disease
9. ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
10. Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study.
11. HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.
12. Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients.
13. A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features
14. Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities
15. POLRMT mutations impair mitochondrial transcription causing neurological disease
16. When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)
17. The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia
18. The First Case of BENTA Disease (B Cell Expansion with NF-κB and T Cell Anergy) from Iran
19. SZT2 mutation in a boy with intellectual disability, seizures and autistic features
20. Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss
21. Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability
22. Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
23. Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
24. The First Iranian Case of Unstable Hemoglobin Santa Ana.
25. The liver-derived exosomes stimulate insulin gene expression in pancreatic beta cells under condition of insulin resistance
26. Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing
27. SLC52A2 mutations cause SCABD2 phenotype: A second report
28. Genetics of intellectual disability in consanguineous families
29. The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran
30. P604: Diagnostic utility of NGS testing in a highly consanguineous population: Findings from 1400+ Iranian patients with Mendelian disorders
31. P483: A comprehensive study of spinal muscular atrophy testing referrals’ data among the Iranian population since 2006
32. P292: Contribution of rare variants in the development of familial premature coronary artery disease in a cohort of cardiac patients
33. Proposal for a Modified Model of Musharakah Financing, with Emphasis on Iran
34. Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran
35. Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort
36. Supplementary Table 3 from Epigenetically Deregulated microRNA-375 Is Involved in a Positive Feedback Loop with Estrogen Receptor α in Breast Cancer Cells
37. Supplementary Methods, Figures 1-2, Tables 1-2 from Epigenetically Deregulated microRNA-375 Is Involved in a Positive Feedback Loop with Estrogen Receptor α in Breast Cancer Cells
38. Data from Epigenetically Deregulated microRNA-375 Is Involved in a Positive Feedback Loop with Estrogen Receptor α in Breast Cancer Cells
39. Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review
40. An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene
41. CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival
42. Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene
43. Diagnostic pitfalls of less well recognized HbH disease
44. Implementation of an In-House Platform for Rapid Screening of SARS-CoV-2 Genome Variations
45. Bi‐allelic loss of function variant in theNRCAMgene is associated with motor‐predominant axonal polyneuropathy; the second report
46. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly
47. Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of Hearing Loss in Iranian population
48. Identification of the Presence of a Novel Variant of CC2D1A Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene
49. Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability
50. Genetics of non-syndromic hearing loss in the Middle East
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