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List of works by Dhanya L Narayanan

A novel variant in MED12 gene: Further delineation of phenotype

scientific article published on 23 May 2017

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

scientific article published on 27 June 2019

Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2

scientific article published on 31 October 2019

Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings

scientific article published on 18 March 2020

Cardiac Spectrum, Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study ⬇️

scientific article published on August 10, 2013

Familial choreoathetosis due to novel heterozygous mutation in PDE10A.

scientific article published on 12 November 2017

Genetic Disorders with Central Nervous System White Matter Abnormalities: An Update

scientific article published on 12 October 2020

Malan syndrome: Extension of genotype and phenotype spectrum

scientific article published on 10 December 2018

Sirenomelia: Case Reports and Current Concepts of Pathogenesis ⬇️

scientific article published on July 20, 2012

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

scientific article published on 23 January 2019

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