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Adriano Angioni

Boston Children's Hospital

67

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Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

2018 Molecular Medicine
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Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders.

2018 Journal of Autism and Developmental Disorders
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Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

2017 Journal of Medical Genetics
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Congenital heart defects in molecularly proven Kabuki syndrome patients

2017 American Journal of Medical Genetics Part A
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Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

2016 Orphanet Journal of Rare Diseases
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Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma

2015 BMC Cancer
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Sporadic retinoblastoma and pilocytic astrocytoma: A rare association of two tumors

2015 Pediatric Blood & Cancer
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Hypoplastic left heart syndrome and 21q22.3 deletion

2015 American Journal of Medical Genetics Part A
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Kabuki syndrome: clinical and molecular diagnosis in the first year of life

2015 Archives of Disease in Childhood
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Mutazioni nei geni del pathway pancreatico: fattore di rischio per pancreatite in pazienti con fibrosi cistica?

2015
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