Pooja S. Chaudhary

Ahmedabad, GJ, India

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review.

A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review.

Journal: Gene

Published: November 10, 2025

Heterozygous Beta Thalassemia with Segmental Duplication of chr16p13.3 Leading to Thalassemia Intermedia Phenotype: A Report of 2 Cases with Review of Literature.

Heterozygous Beta Thalassemia with Segmental Duplication of chr16p13.3 Leading to Thalassemia Intermedia Phenotype: A Report of 2 Cases with Review of Literature.

Journal: Hemoglobin

Published: April 25, 2025

A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature review.

A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature review.

Journal: Journal of human genetics

Published: February 28, 2025

Hb Koya Dora: An Under-recognized Variant of Alpha Thalassemia in India.

Hb Koya Dora: An Under-recognized Variant of Alpha Thalassemia in India.

Journal: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion

Published: August 06, 2024

Identification of a novel cryptic variant chromosomal rearrangement involving 9q34, 22q11.2, and 5q22 resulting in ins(9;22) and t(5;22) in chronic myeloid leukemia: a case report.

Identification of a novel cryptic variant chromosomal rearrangement involving 9q34, 22q11.2, and 5q22 resulting in ins(9;22) and t(5;22) in chronic myeloid leukemia: a case report.

Journal: Annals of hematology

Published: July 26, 2024

Significance of Somatic Mutation Profiling in CML Beyond BCR-ABL: A Retrospective Study of the Indian Population.

Significance of Somatic Mutation Profiling in CML Beyond BCR-ABL: A Retrospective Study of the Indian Population.

Journal: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion

Published: February 24, 2024

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review.

Acute Myeloid Leukemia and Next-Generation Sequencing Panels for Diagnosis: A Comprehensive Review.

Journal: Journal of pediatric hematology/oncology

Published: October 07, 2023

Validation of a novel NGS based BCR::ABL1 kinase domain mutation detection assay in Indian cohort.

Validation of a novel NGS based BCR::ABL1 kinase domain mutation detection assay in Indian cohort.

Journal: Scientific reports

Published: August 10, 2023

Validation of a method for diosgenin extraction from fenugreek (Trigonella foenum-graecum L.).

Validation of a method for diosgenin extraction from fenugreek (Trigonella foenum-graecum L.).

Journal: Acta scientiarum polonorum. Technologia alimentaria

Published: December 19, 2018

Elicitation of Diosgenin Production in Trigonella foenum-graecum (Fenugreek) Seedlings by Methyl Jasmonate.

Elicitation of Diosgenin Production in Trigonella foenum-graecum (Fenugreek) Seedlings by Methyl Jasmonate.

Journal: International journal of molecular sciences

Published: November 16, 2015

Whole-Genome Sequencing of Brevundimonas diminuta XGC1, Isolated from a Tuberculosis Patient in Gujarat, India.

Whole-Genome Sequencing of Brevundimonas diminuta XGC1, Isolated from a Tuberculosis Patient in Gujarat, India.

Journal: Genome announcements

Published: June 27, 2015

Showing 1-11 of 11

Last Updated: 09/26/2026