Anupriya Kaur

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Publications (10)

• Unraveling the Genetic Fabric of Febrile Seizures
  Indian Journal of Pediatrics 2026 DOI: 10.1007/s12098-026-06110-2
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• Case Studies of Two Classical Imprinting Growth Disorders: Silver–Russell and Beckwith–Wiedemann Syndromes
  Journal of Pediatric Genetics 2024 DOI: 10.1055/s-0041-1739388
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• Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy
  Journal of Pediatric Genetics 2024 DOI: 10.1055/s-0042-1748019
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• Parents of Indian Children with Down Syndrome: Stigma and Health Related Quality of Life
  Indian Journal of Pediatrics 2023 DOI: 10.1007/s12098-023-04693-8
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• Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?
  Ophthalmic Genetics 2023 DOI: 10.1080/13816810.2022.2141793
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• Short Stature Syndromes: Case Series from India
  Journal of Pediatric Genetics 2022 DOI: 10.1055/s-0041-1726037
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• Novel variation in ANTXR2 gene causing hyaline fibromatosis syndrome: A report from India
  Congenital Anomalies 2021 DOI: 10.1111/cga.12414
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• X‐linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy
  American Journal of Medical Genetics Part A 2021 DOI: 10.1002/ajmg.a.62134
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• Ayme gripp syndrome in an Indian patient
  American Journal of Medical Genetics Part A 2021 DOI: 10.1002/ajmg.a.62053
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• Wolf–Hirschhorn syndrome: A case series from India
  American Journal of Medical Genetics Part A 2020 DOI: 10.1002/ajmg.a.61856
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