0000-0003-1313-0851 Employment
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Publications (12)
- Genotypic and Phenotypic Profile of Hereditary Spastic Paraplegia in Children: A Single-Centre Study from Northern India Save
- Molecular and Clinical Landscape of Osteogenesis Imperfecta: Unraveling Autosomal Recessive Forms, Therapeutic Outcomes, and Bone Mineral Density in Carriers Save
- Spectrum of Inherited Childhood‐Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable Causes Save
- Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature Save
- Resolving fetal hydrops – A rare entity Save
- Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data Save
- Monosomy 1p36: Report of a cohort of 13 Asian Indian patients Save
- Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants Save
- Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum Save
- Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India Save