Kamal K. Pandita - Publications

A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.

Journal: Gene

Published: April 25, 2025

Cost-effective Whole Exome Sequencing discovers pathogenic variant causing Neurofibromatosis type 1 in a family from Jammu and Kashmir, India.

Journal: Scientific reports

Published: May 18, 2022

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

Journal: Frontiers in genetics

Published: August 03, 2019

Finding the Hidden-cerebellopontine Angle Neurocysticercosis.

Journal: The Journal of the Association of Physicians of India

Published: April 03, 2019

A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications.

Journal: Mitochondrion

Published: January 08, 2018

LoCa LoPa myelopathy: is prevention better than cure?

Journal: Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases

Published: July 26, 2017

Celiac Neuropathy: A Case Report from Kashmir (India).

Journal: The Journal of the Association of Physicians of India

Published: November 03, 2016

Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India.

Journal: Scientific reports

Published: January 12, 2016

Gender differences in insulin and C-peptide concentrations at birth using cord blood collection.

Journal: Archives of endocrinology and metabolism

Published: November 03, 2015

Cancer trends in Kashmir; common types, site incidence and demographic profiles: National Cancer Registry 2000-2012.

Journal: Indian journal of cancer

Published: August 09, 2014

"Peripheral neuropathy crippling bronchial asthma": two rare case reports of churg-strauss syndrome.

Journal: Case reports in pulmonology

Published: June 23, 2014

Visceral leishmaniasis (kalazar) migrating West: a new autochthonous case from sub-Himalayas.

Journal: Indian journal of medical microbiology

Published: January 09, 2014