Journal of Pediatric Genetics 2015_01-_1-37___i.html Ocak 27, 2025’' te gönderildi osman tarafından Journal of Pediatric Genetics Journal of Pediatric Genetics Issue 01 · Volume 04 · March 2015 DOI: 10.1055/s-005-29742 i Contributing Reviewers in 2014 Full Text HTML PDF (33 kb) Review Article 001 Zayed, Hatem: Krabbe Disease in the Arab World Full Text HTML PDF (148 kb) 009 Sweeney, Walter M.; Lanier, Steve T.; Purnell, Chad A.; Gosain, Arun K.: Genetics of Cleft Palate and Velopharyngeal Insufficiency Full Text HTML PDF (253 kb) 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 Full Text HTML PDF (109 kb) 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 Full Text HTML PDF (196 kb) 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 Full Text HTML PDF (151 kb) 034 Cox, Devin M.; Butler, Merlin G.: A Case of the 7p22.2 Microduplication: Refinement of the Critical Chromosome Region for 7p22 Duplication Syndrome Full Text HTML PDF (143 kb) osman 2016_02-_Hereditary_Cancer_Syndromes_in_Children.html 2013_01-_1-51.html