Girish Subramaniam

4th Floor, Opposite Hotel Central Point, Central Bazar Road, Ramdaspeth
Nagpur, MH 440010, India

Last Updated: 09/26/2026

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Found 8 publications

A novel homozygous C15ORF41 variant (c.251T > A; p.Val84Glu) causing congenital dyserythropoietic anemia type Ib in an Indian patient: molecular and structural evidence.

A novel homozygous C15ORF41 variant (c.251T > A; p.Val84Glu) causing congenital dyserythropoietic anemia type Ib in an Indian patient: molecular and structural evidence.

Journal: Molecular biology reports

Published: March 06, 2026

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders.

Journal: American journal of medical genetics. Part A

Published: February 20, 2026

Case Report: Functional investigation of the γENaC G532S mutation presenting as mild PHA-1B3.

Case Report: Functional investigation of the γENaC G532S mutation presenting as mild PHA-1B3.

Journal: Frontiers in medicine

Published: April 02, 2025

Common Variable Immunodeficiency Disorder: A Decade of Insights from a Cohort of 150 Patients in India and the Use of Machine Learning Algorithms to Predict Severity.

Common Variable Immunodeficiency Disorder: A Decade of Insights from a Cohort of 150 Patients in India and the Use of Machine Learning Algorithms to Predict Severity.

Journal: Journal of clinical immunology

Published: October 05, 2024

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Journal: Clinical genetics

Published: April 07, 2021

Antibiotic Resistance - A Cause for Reemergence of Infections.

Antibiotic Resistance - A Cause for Reemergence of Infections.

Journal: Indian journal of pediatrics

Published: October 08, 2019

Iron Deficiency Anemia in Children: Authors' Reply.

Iron Deficiency Anemia in Children: Authors' Reply.

Journal: Indian journal of pediatrics

Published: August 16, 2015

Iron deficiency anemia in children.

Iron deficiency anemia in children.

Journal: Indian journal of pediatrics

Published: June 17, 2014

Showing 1-8 of 8

Last Updated: 09/26/2026