Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role? by Angelo Valetto, Veronica Bertini, Alessia Azzarà, Annalisa Legitimo, Roberta Milone, Roberta Battini, Rita Consolini

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Distinct Immunophenotypic Features in Patients Affected by 22q11.2 Deletion Syndrome with Immune Dysregulation and Infectious Phenotype by Giorgio Costagliola, Annalisa Legitimo, Veronica Bertini, Antonino Maria Quintilio Alberio, Angelo Valetto, Rita Consolini

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Temperature-Sensitive Auditory Neuropathy: Report of a Novel Variant of OTOF Gene and Review of Current Literature by Francesca Forli, Silvia Capobianco, Stefano Berrettini, Luca Bruschini, Silvia Romano, Antonella Fogli, Veronica Bertini, Francesco Lazzerini

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A 17q duplication prenatally detected by Rossella Bruno, Angelo Valetto, Veronica Bertini, Cinzia Cosini, Benedetta Toschi, Caterina Congregati, Simona Rossi, Paolo Simi

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Clinical, Immunological, and Genetic Findings in a Cohort of Patients with the DiGeorge Phenotype without 22q11.2 Deletion by Antonino Maria Quintilio Alberio, Annalisa Legitimo, Veronica Bertini, Giampiero I. Baroncelli, Giorgio Costagliola, Angelo Valetto, Rita Consolini

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Case report: Familial case with autism spectrum and bipolar disorder showing a 20q11.21 microduplication including TM9SF4 by Marly Simoncini, Miriam Violi, Angelo Valetto, Veronica Bertini, Francy Cruz-Sanabria, Leonardo Massoni, Liliana Dell’Osso, Claudia Carmassi

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Enhancing <i>DLG2</i> Implications in Neuropsychiatric Disorders: Analysis of a Cohort of Eight Patients with 11q14.1 Imbalances by Veronica Bertini, Roberta Milone, Paola Cristofani, Francesca Cambi, Chiara Bosetti, Filippo Barbieri, Silvano Bertelloni, Giovanni Cioni, Angelo Valetto, Roberta Battini

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Phenotypic Spectrum of <i>NFIA</i> Haploinsufficiency: Two Additional Cases and Review of the Literature by Veronica Bertini, Francesca Cambi, Alessandro Orsini, Alice Bonuccelli, Aureliano Fiorini, Andrea Santangelo, Massimo Scacciati, Maurizio Elia, Ornella Galesi, Diego Peroni, Angelo Valetto

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In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (<i>DMRT1</i>) in an <i>SRY</i>-Negative Boy with a 46,XX Disorder of Sex Development by Veronica Bertini, Fulvia Baldinotti, Pietro Parma, Nina Tyutyusheva, Margherita Sepich, Giulia Bertolucci, Camillo Rosano, Maria Adelaide Caligo, Diego Peroni, Angelo Valetto, Silvano Bertelloni

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Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome by Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini, Maria Adelaide Caligo

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Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients by Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Operto, Grazia Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli

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