Deepti Gupta

Employment

• Sir Ganga Ram Hospital Scientist
  2009 - Present

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (9)

• CEDNIK Syndrome – A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis
  Indian Journal of Pediatrics 2024 DOI: 10.1007/s12098-024-05086-1
  +Save
• Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred
  Molecular Syndromology 2020 DOI: 10.1159/000505506
  +Save
• Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients
  Molecular Genetics and Metabolism Reports 2020 DOI: 10.1016/j.ymgmr.2019.100561
  +Save
• Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K)
  Annals of Human Genetics 2018 DOI: 10.1111/ahg.12256
  +Save
• Urea cycle disorders in India: Clinical course, biochemical and genetic investigations, and prenatal testing Dr. Segolene Ayme
  Orphanet Journal of Rare Diseases 2018 DOI: 10.1186/s13023-018-0908-1
  +Save
• Ethylmalonic encephalopathy in an Indian boy
  Indian Pediatrics 2016 DOI: 10.1007/s13312-016-0959-0
  +Save
• Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes
  Genetic Testing and Molecular Biomarkers 2016 DOI: 10.1089/gtmb.2016.0017
  +Save
• Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients
  European Journal of Medical Genetics 2015 DOI: 10.1016/j.ejmg.2015.08.002
  +Save
• Ms
  +Save