Neerja Gupta

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Publications (227)

• An unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome
  Ophthalmic Genetics 2025 DOI: 10.1080/13816810.2024.2422582
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• Clinical spectrum of and outcomes for Indian children with deficiency of adenosine deaminase 2 (DADA2): a multicentric study
  Rheumatology 2025 DOI: 10.1093/RHEUMATOLOGY/KEAE489
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• Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies
  The Indian Journal of Pediatrics 2025 DOI: 10.1007/S12098-024-05266-Z
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• Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India
  American Journal of Medical Genetics Part A 2025 DOI: 10.1002/AJMG.A.64057
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• Digging Out Metabolic Causes in Global Developmental Delay
  The Indian Journal of Pediatrics 2025 DOI: 10.1007/S12098-024-05268-X
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• Exploring the safety and diagnostic utility of amniocentesis after 24 weeks of gestation: a retrospective analysis
  Journal of Perinatal Medicine 2025 DOI: 10.1515/JPM-2024-0434
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• Fabry nephropathy and membranous lupus nephritis-an unexplored link
  BMJ Case Reports 2025 DOI: 10.1136/BCR-2025-265716
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• Genetic Landscape of Dystonia in Asian Indians
  Movement Disorders Clinical Practice 2025 DOI: 10.1002/MDC3.14325
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• Isolated Lateralized Overgrowth - Phenotypic Spectrum and Molecular Alterations
  The Indian Journal of Pediatrics 2025 DOI: 10.1007/S12098-024-05273-0
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• Personalized management of hepatic glycogen storage disorders: The role of continuous glucose monitoring
  Journal of Pediatric Gastroenterology and Nutrition 2025 DOI: 10.1002/JPN3.12391
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