Mayuri Yeole
Manipala, KA, India
Last Updated: 09/26/2026
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Found 8 publications
A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.
Journal: Neurogenetics
Published: September 26, 2025
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024
Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish.
Journal: European journal of human genetics : EJHG
Published: August 30, 2024
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature.
Journal: Clinical dysmorphology
Published: August 14, 2024
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.
Journal: Clinical genetics
Published: July 30, 2024
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Journal: American journal of human genetics
Published: July 28, 2024
Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.
Journal: American journal of medical genetics. Part A
Published: April 30, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Journal: Clinical genetics
Published: November 13, 2023
Showing 1-8 of 8
Last Updated: 09/26/2026