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Yaser Rafiq Mir

ORCID: 0000-0001-7027-4064
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About
Contact & Profiles
A5071697043
Research Areas
  • RNA regulation and disease
  • Genetics and Neurodevelopmental Disorders
  • Glycosylation and Glycoproteins Research
  • Genomic variations and chromosomal abnormalities
  • Hearing, Cochlea, Tinnitus, Genetics
  • Chromatin Remodeling and Cancer
  • Mitochondrial Function and Pathology
  • Epigenetics and DNA Methylation
  • Trace Elements in Health
  • Biochemical and Molecular Research
  • Carbohydrate Chemistry and Synthesis
  • Erythrocyte Function and Pathophysiology
  • Ubiquitin and proteasome pathways
  • Galectins and Cancer Biology
  • Neurological diseases and metabolism
  • CRISPR and Genetic Engineering
  • Amino Acid Enzymes and Metabolism
  • Skin and Cellular Biology Research
  • RNA and protein synthesis mechanisms
  • Metabolism and Genetic Disorders
  • Ocular Disorders and Treatments
  • Genetic Neurodegenerative Diseases
  • Hedgehog Signaling Pathway Studies

Baba Ghulam Shah Badshah University
 2019-2023

Government Medical College
 2022

 ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India
OPENALEX - Publications 
Raja A. H. Kuchay Yaser Rafiq Mir Xue Zeng Asima Hassan Javed Musarrat and 4 more Iqbal Parwez Christoph Kernstock Andreas Traschütz Matthis Synofzik

10.1007/s12311-019-01028-2 article EN The Cerebellum 2019-04-08
 Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy
OPENALEX - Publications 
Yaser Rafiq Mir Ashish Kumar Agrahari Asima Hassan Abhishek Choudhary Shailendra Asthana and 5 more Atul K. Taneja Shah Nawaz Mohd Ilyas Claudia Scotti Raja A. H. Kuchay

10.1007/s11033-023-09072-2 article EN Molecular Biology Reports 2023-12-28
 Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir
OPENALEX - Publications 
Raja A. H. Kuchay Yaser Rafiq Mir Xue Zeng Asima Hassan Kazunori Namba and 1 more Mustafa Tekin

10.1016/j.ijporl.2019.109831 article EN International Journal of Pediatric Otorhinolaryngology 2019-12-16
 Exome sequencing and molecular dynamics simulation characterizes a compound heterozygous GCDH missense variant leading to glutaric aciduria type 1 in a paediatric patient from Jammu and Kashmir, India
OPENALEX - Publications 
Yaser Rafiq Mir Ashish Kumar Agrahari Abhishek Choudhary Asima Hassan Atul K. Taneja and 6 more Juan Carlos Zenteno Luis Montes‐Almanza Marta Rusmini Kazunori Namba Aaqib Zaffar Banday Raja A. H. Kuchay

10.1016/j.genrep.2024.102092 article EN Gene Reports 2024-11-01
 Giant axonal neuropathy with novel GAN pathogenic variant in a patient of consanguineous origin from Poonch Jammu and Kashmir-India
OPENALEX - Publications 
Yaser Rafiq Mir Xue Zeng Atul K. Taneja Asima Hassan Jayesh Sheth and 1 more Raja A. H. Kuchay

10.1007/s11033-021-06166-7 article EN Molecular Biology Reports 2021-02-01
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