Sudha K. Kohli

New Delhi, DL 110060, India

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 25 publications

Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India.

Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India.

Journal: Indian journal of pediatrics

Published: February 14, 2026

Organic Acidemias in India: Clinical and Molecular Spectrum.

Organic Acidemias in India: Clinical and Molecular Spectrum.

Journal: Indian journal of pediatrics

Published: December 22, 2025

Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.

Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.

Journal: Indian journal of pediatrics

Published: March 03, 2025

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.

Journal: European journal of human genetics : EJHG

Published: July 29, 2023

Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.

Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.

Journal: Indian pediatrics

Published: June 13, 2022

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

Journal: European journal of medical genetics

Published: April 18, 2022

Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.

Carrier screening of spinal muscular atrophy in North Indian population and its public health implications.

Journal: Clinical genetics

Published: April 30, 2020

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.

Journal: BMC medical genetics

Published: April 17, 2020

Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.

Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.

Journal: Indian journal of pediatrics

Published: October 22, 2019

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Journal: Journal of human genetics

Published: October 17, 2018

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Journal: Orphanet journal of rare diseases

Published: February 21, 2018

Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney Disease.

Vascular Endothelial Growth Factor (VEGF) Gene Promoter Polymorphisms and Disease Progression in North Indian Cohort with Autosomal Dominant Polycystic Kidney Disease.

Journal: International journal of molecular and cellular medicine

Published: July 14, 2017

Showing 1-12 of 25

Last Updated: 09/26/2026