0000-0001-7027-4064 About
I am a post doctoral fellow working on Pediatric rare genetic disorders. I have Ph.D. in genetics of syndromic and non syndromic intellectual disability.
Employment
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Baba Ghulam Shah Badshah University Senior Project Associate2022 - Present
Education
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Baba Ghulam Shah Badshah University Doctorate2017 - 2023
Projects & Funding
Projects & funding information is unavailable.
Publications (7)
- Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy Save
- Epigenetics in Eye Development and Ocular Disorders: A Brief Review Save
- Ocular findings and genomics of X-linked recessive disorders: A review Save
- Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir‑India Save
- Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir Save
- ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India Save
- Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review. Save