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Leopoldo Zelante

Casa Sollievo della Sofferenza

235

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11950

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Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

2016 Journal of Human Genetics
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Clinical and molecular characterization of a de novo 19p13.3 microdeletion

2016 Molecular Cytogenetics
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A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

2016 Journal of pediatric genetics
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Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1

2016 Journal of Endocrinological Investigation
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Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

2016 Journal of Dermatological Science
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Genomic and Genetic Disorders Biobank

2015 Open Journal of Bioresources
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Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms

2015 American Journal of Medical Genetics Part A
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A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

2015 BMC Medical Genetics
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Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay

2015 American Journal of Medical Genetics Part A
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De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes

2015 Molecular Cytogenetics
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