Abhishek Kulkarni

118 Morya Estate
Mumbai, MH, India

Last Updated: 09/26/2026

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Found 13 publications

Case report: compound heterozygous PTH1R variant(s) in a patient with inactivating PTH/PTHrP signalling disorder type 1 (iPPSD1).

Case report: compound heterozygous PTH1R variant(s) in a patient with inactivating PTH/PTHrP signalling disorder type 1 (iPPSD1).

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: January 12, 2026

Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.

Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes.

Journal: Diabetes

Published: October 06, 2025

Successful Glans Reimplantation in a Case of Hair Tourniquet Syndrome of Penis.

Successful Glans Reimplantation in a Case of Hair Tourniquet Syndrome of Penis.

Journal: Journal of Indian Association of Pediatric Surgeons

Published: December 22, 2024

Hemophagocytic Lymphohistiocytosis: A Rare Complication of Acute Hepatitis E Infection.

Hemophagocytic Lymphohistiocytosis: A Rare Complication of Acute Hepatitis E Infection.

Journal: The Journal of the Association of Physicians of India

Published: June 17, 2024

A Single-Stage Medial Opening Wedge High Tibial Osteotomy for Varus Alignment Correction With Revision Arthroscopic Anterior Cruciate Ligament (ACL) Reconstruction.

A Single-Stage Medial Opening Wedge High Tibial Osteotomy for Varus Alignment Correction With Revision Arthroscopic Anterior Cruciate Ligament (ACL) Reconstruction.

Journal: Cureus

Published: March 11, 2024

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Journal: Nature communications

Published: February 29, 2024

Biallelic Mutations in P4HTM Cause Syndromic Obesity.

Biallelic Mutations in P4HTM Cause Syndromic Obesity.

Journal: Diabetes

Published: December 12, 2022

Optimization and validation of RT-LAMP assay for diagnosis of SARS-CoV2 including the globally dominant Delta variant.

Optimization and validation of RT-LAMP assay for diagnosis of SARS-CoV2 including the globally dominant Delta variant.

Journal: Virology journal

Published: March 17, 2021

An overview on mechanism, cause, prevention and multi-nation policy level interventions of dietary iron deficiency.

An overview on mechanism, cause, prevention and multi-nation policy level interventions of dietary iron deficiency.

Journal: Critical reviews in food science and nutrition

Published: February 05, 2021

X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India.

X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India.

Journal: Journal of orthopaedic case reports

Published: September 21, 2020

Van Wyk Grumbach Syndrome: A Rare Consequence of Hypothyroidism.

Van Wyk Grumbach Syndrome: A Rare Consequence of Hypothyroidism.

Journal: Indian journal of pediatrics

Published: April 28, 2018

Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy.

Neonatal severe hyperparathyroidism due to compound heterozygous mutation of calcium sensing receptor (CaSR) gene presenting as encephalopathy.

Journal: Indian journal of pediatrics

Published: January 26, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026