Krutik Patel
Newcastle Upon Tyne, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 9 publications
Phenotypic characterization of dominantly inherited distal nebulin myopathy.
Journal: Neuromuscular disorders : NMD
Published: December 23, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Journal: European journal of human genetics : EJHG
Published: January 07, 2025
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.
Journal: European journal of human genetics : EJHG
Published: October 16, 2024
Systems analysis of miR-199a/b-5p and multiple miR-199a/b-5p targets during chondrogenesis.
Journal: eLife
Published: October 14, 2024
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.
Journal: Brain communications
Published: April 09, 2024
Comparative transcriptomic analysis of articular cartilage of post-traumatic osteoarthritis models.
Journal: Disease models & mechanisms
Published: November 06, 2023
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Journal: Orphanet journal of rare diseases
Published: July 07, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Journal: Brain : a journal of neurology
Published: May 22, 2023
Showing 1-9 of 9
Last Updated: 09/26/2026