Anusha Uttarilli
Bengaluru, KA, India
Last Updated: 09/26/2026
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Found 13 publications
Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.
Journal: Journal of human genetics
Published: May 28, 2025
Conotruncal Heart Defects: A Narrative Review of Molecular Genetics, Genomics Research and Innovation.
Journal: Omics : a journal of integrative biology
Published: July 10, 2024
Super-rapid race for saving lives by developing COVID-19 vaccines.
Journal: Journal of integrative bioinformatics
Published: February 03, 2021
Mongolian spots in GM1 gangliosidosis: a pictorial report.
Journal: Clinical dysmorphology
Published: October 10, 2020
A review of skeletal dysplasia research in India.
Journal: Journal of postgraduate medicine
Published: April 26, 2018
Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).
Journal: Gene
Published: June 30, 2016
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
Journal: Clinical genetics
Published: January 11, 2016
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Journal: The Indian journal of medical research
Published: November 27, 2015
GAPO syndrome with deafness: new feature or incidental finding?
Journal: Clinical dysmorphology
Published: December 12, 2013
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
Journal: American journal of medical genetics. Part A
Published: July 27, 2013
Last Updated: 09/26/2026