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List of works by Neerja Gupta

A Novel MECP2 Change in an Indian Boy With Variant Rett Phenotype and Congenital Blindness: Implications for Genetic Counseling and Prenatal Diagnosis ⬇️

scientific article published on 01 February 2011

Bi-allelic loss-of-function novel variants in LTBP3-related skeletal dysplasia: Report of first patient from India

scientific article published on 20 May 2020

Duchenne Muscular Dystrophy- Where Genetic Testing is Inevitable and Vital!

scientific article published on 16 May 2020

Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

scientific article published on 29 January 2020

Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings ⬇️

scientific article published on April 19, 2013

Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C

scientific article published on 22 October 2019

Impact of vitamin D fortified milk supplementation on vitamin D status of healthy school children aged 10–14 years ⬇️

scientific article published on March 5, 2013

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome

scientific article published on 27 November 2018

Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome

scientific article published on 09 April 2019

Report of a Novel Homozygous Nonsense DDR2 Mutation in an Indian Adult Male with Spondylo-meta-epiphyseal Dysplasia, Short Limb-Abnormal Calcification Type

scientific article published on 12 March 2019

Report of an Indian Family with Sengers Syndrome

scientific article published on 27 August 2020

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7 ⬇️

scientific article published on December 12, 2012

Skeletal abnormalities are common features in Aymé-Gripp syndrome

scientific article published on 03 November 2019

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III

scientific article published on 28 March 2020

Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease ⬇️

scientific article published on February 9, 2013

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