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Journal of Pediatric Genetics

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https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00029027.xml

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