570 results on '"Garshasbi, Masoud"'
Search Results
2. Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families
3. Investigation the role of SIRT3, SIRT7, NFATC1, and PDL-1 genes in androgenetic alopecia
4. A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9)
5. The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
6. 123VCF: an intuitive and efficient tool for filtering VCF files
7. Hsa-miR-194-5p and hsa-miR-195-5p are down-regulated expressed in high dysplasia HPV-positive Pap smear samples compared to normal cytology HPV-positive Pap smear samples
8. Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71
9. Establishment of the contribution of AGBL5 in autosomal recessive retinitis pigmentosa: Experience from an Iranian family evaluation and literature review
10. Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature
11. High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
12. DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity
13. Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
14. Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report
15. Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report
16. Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
17. Correction: Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients
18. The genetic landscape and possible therapeutics of neurofibromatosis type 2
19. Cell-free fetal DNA (cffDNA) extraction from whole blood by using a fully automatic centrifugal microfluidic device based on displacement of magnetic silica beads
20. Compound heterozygous variants in SPNS2 cause sensorineural hearing loss
21. A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy
22. Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
23. A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy
24. Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene
25. Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report
26. Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report
27. Prevalence and Genotype Distribution of Human Papillomavirus Infection among 12 076 Iranian Women
28. Defective complex III mitochondrial respiratory chain due to a novel variant in CYC1 gene masquerades acute demyelinating syndrome or Leber hereditary optic neuropathy
29. Crystallographic modeling of the PNPT1:c.1453A>G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical features
30. A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses
31. Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family
32. Identification of novel loss of function variants in MBOAT7 resulting in intellectual disability
33. Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection
34. Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8
35. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family
36. Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population
37. The identification of two pathogenic variants in a family with mild and severe forms of developmental delay
38. Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum
39. Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy
40. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
41. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
42. Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review
43. Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS
44. Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family
45. ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants
46. Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
47. Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests
48. Homozygous TREM2 c.549del; p.(Leu184Serfs*5) variant causing Nasu‐Hakola disease in three siblings in a consanguineous Iraqi family: Case report and review of literature.
49. A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies
50. Evaluation of the association of single nucleotide polymorphisms in DDP4 and CDK5RAP2 genes with rheumatoid arthritis susceptibility in Iranian population
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