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Open access

Research article

First published 2025-5

Titinopathies: Phenotype – genotype heterogeneity in an Indian cohort

Dipti Baskar, Seena Vengalil, Kiran Polavarapu [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2024-12

Pandemic and the Mongoloid Phenotypes in India

Naorem Pushparani Chanu, Gorky Chakraborty

Social Change

Open access

Case report

First published 2017-12-18

Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation

Sangeeta Khatter, Ratna Dua Puri, Sunita Bijarnia-Mahay [...]

Translational Science of Rare Diseases

Open access

Case report

First published 2024-01-02

A Novel Mutation in Frabin ( FGD4 ) Causing a Mild Phenotype of CMT4H in an Indian Patient

Vikas Nishadham, Rashmi Santhoshkumar, Saraswati Nashi [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2023-07-04

Phenotype Genotype Characterization of FKRP -related Muscular Dystrophy among Indian Patients

Gopikrishnan Unnikrishnan, Kiran Polavarapu, Mainak Bardhan [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2024

GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort

Dipti Baskar, Nishanth Reddy, Veeramani Preethish-Kumar [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2011-3

Prevalence and Clinical Profile of Metabolic Obesity and Phenotypic Obesity in Asian Indians

Loganathan Geetha, Mohan Deepa, Ranjit Mohan Anjana [...]

Journal of Diabetes Science and Technology

Open access

Research article

First published 2025-01

Combined Effect of Ambient Temperature and Relative Humidity on Skin Aging Phenotypes in the Era of Climate Change: Results from an Indian Cohort Study

Nidhi Singh, Claudia Wigmann, Prince Vijay [...]

Dermatitis®

Retricted access

Research article

First published 2026-1

Normative values and phenotypic performance profiles in the modified closed kinetic chain upper extremity stability test among healthy indian adults– A cross-sectional study

Akshitha Rajasekhar, Rifna Kousar, Ravi Ramadevarapura Honnahalagegowda [...]

Journal of Back and Musculoskeletal Rehabilitation

Open access

Research article

First published 2024

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India

Ganaraja Valakunja Harikrishna, Hansashree Padmanabha, Kiran Polavarapu [...]

Journal of Neuromuscular Diseases

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