Journal of Pediatric Genetics

Issue 01 · March 2015

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Contributing Reviewers in 2014

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Review Article
001
Zayed, Hatem: Krabbe Disease in the Arab World FREE ACCESS

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009
Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.: Genetics of Cleft Palate and Velopharyngeal Insufficiency FREE ACCESS

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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

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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

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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

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034
Cox, Devin M.; Butler, Merlin G.: A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome FREE ACCESS

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