Ratna Dua Puri

18PUBLICATIONS
81CO-AUTHORS
Major global burdens of diseaseMedical biotechnology diagnostics (incl. biosensors)NeonatologyNeurogeneticsDevelopmental genetics (incl. sex determination)
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Publications (18)

|Jul 05, 2026
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country.

|Jan 14, 2025
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.

Neha Garg, Pragna Lakshmi, Suzena M Singh

|Apr 11, 2024
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.

Sameer Bhatia, Swasti Pal, Samarth Kulshrestha

|Oct 07, 2023
Next-Generation Sequencing in Unexplained Intellectual Disability.

Sapna Sandal, Ishwar Chander Verma, Sunita Bijarnia Mahay

|Nov 04, 2022
Antenatal Phenotype of Desbuquois Dysplasia.

Ishpreet K Biji, Sunita Bijarnia Mahay, Renu Saxena

|May 02, 2022
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.

Ranjana Mishra, Samarth Kulshreshtha, Kausik Mandal

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Frequent Collaborators

5 joint publications

Sunita Bijarnia-Mahay

4 joint publications

Ishwar Chander Verma

3 joint publications

Veronica Arora

3 joint publications

Renu Saxena