Anupriya Kaur

Chandigarh, CH, India

Last Updated: 09/26/2026

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Found 75 publications

Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

Clinical, biochemical and molecular spectrum of acute neuronopathic type 2 Gaucher disease from India.

Journal: BMC pediatrics

Published: April 02, 2026

Unraveling the Genetic Fabric of Febrile Seizures.

Unraveling the Genetic Fabric of Febrile Seizures.

Journal: Indian journal of pediatrics

Published: March 02, 2026

Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline Consideration.

Complimentary Episignature Testing for Variant Reclassification: Case Reports with Variant Classification Guideline Consideration.

Journal: Molecular syndromology

Published: January 27, 2026

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Journal: Orphanet journal of rare diseases

Published: October 31, 2025

Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies.

Elective Termination of Pregnancies Due to Fetal Congenital Anomalies: Utility of Various Investigating Modalities for Etiological Diagnosis of Congenital Anomalies.

Journal: Fetal and pediatric pathology

Published: September 11, 2025

Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.

Germline activating sequence variations in RASopathy spectrum genes: genotype-phenotype correlation in a North Indian cohort.

Journal: Frontiers in genetics

Published: July 31, 2025

Real-world performance of Face2Gene and GestaltMatcher for facial image analysis in a large Indian ethnic cohort.

Real-world performance of Face2Gene and GestaltMatcher for facial image analysis in a large Indian ethnic cohort.

Journal: European journal of medical genetics

Published: July 21, 2025

Quantitative proteomic profiling of placental extracellular vesicles in recurrent pregnancy loss reveals their role in feto-maternal crosstalk.

Quantitative proteomic profiling of placental extracellular vesicles in recurrent pregnancy loss reveals their role in feto-maternal crosstalk.

Journal: BMC pregnancy and childbirth

Published: June 24, 2025

EV-microRNA signatures in pregnant women with idiopathic recurrent pregnancy loss: deciphering microRNAome pathway networks at feto-maternal interface.

EV-microRNA signatures in pregnant women with idiopathic recurrent pregnancy loss: deciphering microRNAome pathway networks at feto-maternal interface.

Journal: Frontiers in immunology

Published: February 18, 2025

Evaluation of autonomic tone and cerebral hemodynamics in children with Dravet syndrome.

Evaluation of autonomic tone and cerebral hemodynamics in children with Dravet syndrome.

Journal: Seizure

Published: February 04, 2025

NR3C1 variants and glucocorticoid response in childhood nephrotic syndrome in North India.

NR3C1 variants and glucocorticoid response in childhood nephrotic syndrome in North India.

Journal: BMC nephrology

Published: December 20, 2024

Correlation Between the Motor Outcomes and SMN2 and NAIP Gene Copy Numbers Among North Indian Children with Spinal Muscular Atrophy.

Correlation Between the Motor Outcomes and SMN2 and NAIP Gene Copy Numbers Among North Indian Children with Spinal Muscular Atrophy.

Journal: Annals of Indian Academy of Neurology

Published: November 18, 2024

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Last Updated: 09/26/2026