DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 01 · Volume 04 · March 2015 DOI: 10.1055/s-005-29742

  • i

    Contributing Reviewers in 2014

    • Review Article

  • 001
    Zayed, Hatem:

    Krabbe Disease in the Arab World

  • 009
    Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.:

    Genetics of Cleft Palate and Velopharyngeal Insufficiency

    • Original Article

  • 017
    Sgardioli, Ilária C.; Vieira, Társis P.; Simioni, Milena; Monteiro, Fabíola P.; Gil-da-Silva-Lopes, Vera L.:

    22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening

    • Case Report

  • 023
    Genovese, Ann; Cox, Devin M.; Butler, Merlin G.:

    Partial Deletion of Chromosome 1p31.1 Including only the Neuronal Growth Regulator 1 Gene in Two Siblings

  • 029
    Regala, Joana; Cavaco, Branca; Domingues, Rita; Limbert, Catarina; Lopes, Lurdes:

    Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia

  • 034
    Cox, Devin M.; Butler, Merlin G.:

    A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome