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A novel variant in MED12 gene: Further delineation of phenotype

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado el 10 de agosto de 2013

Familial choreoathetosis due to novel heterozygous mutation in PDE10A.

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Malan syndrome: Extension of genotype and phenotype spectrum

scientific article published on 10 December 2018

Sirenomelia: Case Reports and Current Concepts of Pathogenesis ⬇️

artículo científico publicado el 20 de julio de 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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