PRASHANT KUMAR VERMA

Employment

• All India Institute of Medical Sciences - Rishikesh Additional Professor
  2017 - Present

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (16)

• Brain fog and protein logs: unravelling encephalopathy in lysinuric protein intolerance with rare mutation and expanded phenotypic spectrum
  BMJ Case Reports 2025 DOI: 10.1136/bcr-2025-266564
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• Loeys-Dietz syndrome and Goldenhar syndrome unveiled together
  BMJ Case Reports 2024 DOI: 10.1136/bcr-2023-256740
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• Thurston syndrome with thalassaemia: a rare case devising a novel molecular and phenotypic variation
  BMJ Case Reports 2023 DOI: 10.1136/bcr-2022-253086
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• Behavioral problems in infants and young children with spinal muscular atrophy and their siblings: A cross-sectional study
  European Journal of Paediatric Neurology 2023 DOI: 10.1016/j.ejpn.2022.12.006
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• Congenital aniridia with ectopia lentis and unilateral buphthalmos: an unusual presentation
  BMJ Case Reports 2021 DOI: 10.1136/bcr-2021-244000
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• Isolated bilateral limbal dermoid, preauricular skin tags and ametropic amblyopia
  BMJ Case Reports 2021 DOI: 10.1136/bcr-2021-245078
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• What is your diagnosis?
  Journal of the Turkish-German Gynecological Association 2020 DOI: 10.4274/jtgga.galenos.2020.2019.0184
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• Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms
  Journal of Cellular Biochemistry 2018 DOI: 10.1002/jcb.26834
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• Targeted Molecular Sequencing Revealed Allelic Heterogeneity of BRAF and PTPN11 Genes among Arab Noonan Syndrome Patients
  Russian Journal of Genetics 2018 DOI: 10.1134/S1022795418080033
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• Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia
  Molecular Genetics and Genomic Medicine 2017 DOI: 10.1002/mgg3.305
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