Journal of Pediatric Genetics

Review

001

Dutta, Usha R.:

Precision in chromosome identification with leads in molecular cytogenetics: An illustrated review

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• Full Text PDF (169 kb)

009

Akrami, Seyed Mohammad; Habibi, Laleh:

Retrotransposons and pediatric genetic disorders: Importance and implications

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• Full Text PDF (281 kb)

017

Fraga, Vanêssa Gomes; Gomes, Karina Braga:

Adiponectin gene polymorphisms: Association with childhood obesity

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• Full Text PDF (431 kb)

Case Report

029

Rush, Eric T.; Caldwell, Kathleen S.; Kreikemeier, Rose M.; Lutz, Richard E.; Esposito, Paul W.:

Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss

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• Full Text PDF (348 kb)

035

Corradi, Massimiliano; Monti, Elena; Venturi, Giacomo; Gandini, Alberto; Mottes, Monica; Antoniazzi, Franco:

The recurrent causal mutation for osteogenesis imperfecta type V occurs at a highly methylated CpG dinucleotide within the IFITM5 gene

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• Full Text PDF (186 kb)

041

Jerkovich, Adria M.; Butler, Merlin G.:

Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome

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• Full Text PDF (48 kb)