Priyanka Srivastava

Employment

• Post Graduate Institute of Medical Education and Research Associate Professor
  2019 - Present

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (69)

• Delineating the epilepsy phenotype of NRROS-related microgliopathy: A case report and literature review
  Seizure: European Journal of Epilepsy 2022 8 citations DOI: 10.1016/j.seizure.2022.06.001
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• Association of SNP (rs1042579) in thrombomodulin gene and plasma thrombomodulin level in North Indian children with Kawasaki disease
  Molecular Biology Reports 2022 5 citations DOI: 10.1007/s11033-022-07533-8
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• Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study
  Pediatric Nephrology 2022 13 citations DOI: 10.1007/S00467-021-05388-Y
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• Von Hippel-Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
  Egyptian Journal of Medical Human Genetics 2022 3 citations DOI: 10.1186/S43042-022-00338-1
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• Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants
  International Journal of Laboratory Hematology 2022 3 citations DOI: 10.1111/IJLH.13715
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• Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
  European Journal of Medical Genetics 2022 16 citations DOI: 10.1016/J.EJMG.2022.104447
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• Gas Chromatography Mass Spectrometry Aided Diagnosis of Glutathione Synthetase Deficiency
  Laboratory Medicine 2022 3 citations DOI: 10.1093/LABMED/LMAB084
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• Exploration of Potential Biomarker Genes and Pathways in Kawasaki Disease: An Integrated in-Silico Approach
  Frontiers in Genetics 2022 13 citations DOI: 10.3389/FGENE.2022.849834
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• Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia
  The Indian Journal of Pediatrics 2022 9 citations DOI: 10.1007/S12098-021-03975-3
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• A novel c.1937T > C (p.Leu646Pro) missense mutation in a patient with Leber congenital amaurosis
  Journal of AAPOS 2022 1 citation DOI: 10.1016/J.JAAPOS.2021.08.300
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