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Hossein Darvish

Semnan University

25

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155

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Three functional variants in the NLRP3 gene are associated with susceptibility and clinical characteristics of systemic lupus erythematosus.

2021 Lupus
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The Phenotypic Spectrum of PCDH12-Associated Disorders: Five New Cases and Review of the Literature

2021 Neuropediatrics
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A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.

2020 International Ophthalmology
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Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

2020 American Journal of Human Genetics
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Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II

2020 International Journal of Pediatric Otorhinolaryngology
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Genetic analysis of rs11038167, rs11038172 and rs835784 polymorphisms of the TSPAN18 gene in Iranian schizophrenia patients

2019 Meta Gene
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Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

2019 Nature Communications
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Whole-Exome Sequencing Identified a Novel Mutation of MLH1 in an Extended Family with Lynch Syndrome

2019 Genes and Diseases
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Expression analysis and genotyping of DGKZ: a GWAS-derived risk gene for schizophrenia

2019 Molecular Biology Reports
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Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.

2019 Archives of Iranian Medicine
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