Journal of Congenital Disorders

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    2020: Volume 2, Issue 2
  • Short Communication: JCD (2)

    Keratoacanthoma in Xeroderma Pigmentosum: An Entity Beyond Guess

    Author(s): Radhika Varma

    Abstract | PDF

  • Short Communication: JCD (2)

    The Conundrums of 3ΓΆΒ?Β?-Phoaphoadenosine 5ΓΆΒ?Β?-Phosphosulfate (PAPS) synthase (PAPSS)

    Author(s): K.V. Venkatachalam

    Abstract | PDF

  • Short Communication: JCD (2)

    Polyglutamine ataxias: From Clinical and Molecular Features to Current Therapeutic Strategies

    Author(s): Steve D Wilton

    Abstract | PDF

  • Short Communication: JCD (2)

    Peters Plus Syndrome: Another Way to See a Known Syndrome

    Author(s): Elisabetta Grande

    Abstract | PDF

  • Short Communication: JCD (2)

    A Review of the Type-1 Fibrillinopathies: Pathophysiology, Diagnosis and Novel Therapeutic Strategies

    Author(s): Steve D Wilton

    Abstract | PDF

  • Short Communication: JCD (2)

    Hemifacial Hyperplasia: Two Extremes of Age Presentation

    Author(s): Madhumita Srivastava

    Abstract | PDF

  • Short Communication: JCD (2)

    Readthrough Intervention Increases ER Stress in Wolfram Syndrome

    Author(s): Agnieszka Zmyslowska

    Abstract | PDF

  • Short Communication: JCD (2)

    Optici Nerve Aplasia and Microphthalmos: A Case Report

    Author(s): Cesare Forlini

    Abstract | PDF

Awards Nomination
Google Scholar citation report
Citations : 4

Journal of Congenital Disorders received 4 citations as per Google Scholar report

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