Risultati della ricerca - Giovanni Battista Ferrero
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1
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome
Pubblicazione 2004Testo TestoArtigo -
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Prenatal features of Noonan syndrome: prevalence and prognostic value
Pubblicazione 2011Testo TestoArtigo -
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Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
Pubblicazione 2017TestoArtigo -
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An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient
Pubblicazione 2009Testo TestoArtigo -
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant
Pubblicazione 2017Testo TestoRevisão -
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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour
Pubblicazione 2006Testo TestoArtigo -
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Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
Pubblicazione 2011Testo TestoArtigo -
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14
(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome
Pubblicazione 2015Testo TestoArtigo -
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19
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
Pubblicazione 2017TestoArtigo -
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Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
Pubblicazione 2010TestoArtigo