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Giuseppe Barrano

4

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A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)

2016 Journal of Molecular Neuroscience
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335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.

2012 Gene
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Study of a family in the province of Matera presenting with glucose-6-phosphate dehydrogenase deficiency and Gilbert's syndrome.

2012 Molecular Medicine Reports
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A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis

2011 American Journal of Medical Genetics Part A
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