PS
Pankaj Sharma
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Human Genome Research Institute, Jiwaji University, Sanjay Gandhi Post Graduate Institute of Medical Sciences
0000-0001-9305-3926
Employment
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National Institute of Arthritis and Musculoskeletal and Skin Diseases Post doc fellow2020 - Present
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National Human Genome Research Institute Post doc fellow2018 - 2020
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Sanjay Gandhi Post Graduate Institute of Medical Sciences Research Associate2017 - 2018
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Medgenome Labs Pvt. Ltd Associate Scientist doing exome data analysis2015 - 2017
Education
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Jiwaji University Master of Science2004 - 2006
Projects & Funding
Projects & funding information is unavailable.
Publications (11)
- Monosomy 1p36: Report of a cohort of 13 Asian Indian patients Save
- Glucocerebrosidase as a therapeutic target for Parkinson's disease. Save
- Glucocerebrosidase and its relevance to Parkinson disease. Save
- GBA1-associated parkinsonism: new insights and therapeutic opportunities. Save
- Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene. Save
- Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India. Save
- Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India. Save
- Smith-Magenis Syndrome: Face Speaks. Save
- Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India. Save
- Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p. Save