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List of works by Sunita Bijarnia-Mahay

Carrier screening of spinal muscular atrophy in North Indian population and its public health implications

scientific article published on 01 August 2020

Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K)

scientific article published on 18 May 2018

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients

scientific article published on 14 February 2020

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.

scientific article

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study

scientific article published on 02 November 2020

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

scientific article published on 30 September 2019

Tyrosine hydroxylase deficiency-Clinical insights and a novel deletion in TH gene in an Indian patient

scientific article published on 29 February 2020

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

scientific article published on 01 October 2018

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