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Molecular Cytogenetics|July 24, 2015
Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocationFrenny Sheth, Thomas Liehr, Krati Shah, et al.
American Journal of Medical Genetics. Part A|February 10, 2017
Novel LINS1 missense mutation in a family with non-syndromic intellectual disabilityJayesh Sheth, Gyan Ranjan, Krati Shah, et al.
JIMD Reports|December 9, 2016
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian ExperienceJayesh Sheth, Mehul Mistri, Krati Shah, et al.
BMC Pediatrics|July 13, 2016
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a reviewJayesh Sheth, Chaitanya Datar, Mehul Mistri, et al.
BMC Medical Genetics|January 19, 2017
Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literatureJayesh Sheth, Jijo John Joseph, Krati Shah, et al.
Medical Sciences (Basel, Switzerland)|April 23, 2025
Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare DiseaseJaikumar B Contractor, Venkatesan Radha, Krati Shah, et al.
Molecular Cytogenetics|November 2, 2017
Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15Stuti Tewari, Naznin Lubna, Raju Shah, et al.
Indian Journal of Pediatrics|October 21, 2011
An Indian boy with additional features in Pallister-Killian syndromeKrati Shah, Renu George, Evangelynn Singh Balla, et al.
International Journal of Rheumatic Diseases|October 13, 2017
C-reactive protein gene polymorphisms (rs1205) in Asian Indian patients with Takayasu arteritis: Associations and phenotype correlationsAswin M Nair, Ruchika Goel, Mohan Hindhumati, et al.
Frontiers in Genetics|December 20, 2021
Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon SequencingKomal M Patel, Arpan D Bhatt, Krati Shah, et al.
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