Koumudi G. Godbole
Pune, MH, India
Last Updated: 09/26/2026
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Found 21 publications
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Journal: Orphanet journal of rare diseases
Published: October 31, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Journal: Orphanet journal of rare diseases
Published: April 18, 2024
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Journal: Human genomics
Published: March 05, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Journal: JIMD reports
Published: October 04, 2023
Alazami syndrome: Report of three Indian patients with phenotypic spectrum from adolescence to adulthood.
Journal: American journal of medical genetics. Part A
Published: August 06, 2020
Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family.
Journal: Hemoglobin
Published: April 14, 2018
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.
Journal: JIMD reports
Published: September 09, 2016
Maternal Serum Aneuploidy Screen and Adverse Pregnancy Outcomes.
Journal: Journal of obstetrics and gynaecology of India
Published: June 17, 2015
Experiences from Garbha-Swasthya helpline.
Journal: Indian journal of public health
Published: May 30, 2015
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Journal: Human mutation
Published: May 14, 2015
H syndrome--four new patients from India.
Journal: Indian journal of dermatology, venereology and leprology
Published: November 11, 2014
Last Updated: 09/26/2026