Franco Stanzial

Francesco Benedicenti 11 collaborations

Stefano D'Arrigo 4 collaborations

Elisa Bettella 3 collaborations

Roberta Polli 3 collaborations

Emanuela Leonardi 3 collaborations

Alessandra Murgia 3 collaborations

Roberta Battini 3 collaborations

Damien Lederer 3 collaborations

Federica Cesca 2 collaborations

Maria Cristina Aspromonte 2 collaborations

Stefania Bigoni 2 collaborations

Renato Borgatti 2 collaborations

Romina Romaniello 2 collaborations

Sabrina Signorini 2 collaborations

Enza Maria Valente 2 collaborations

Allan Bayat 2 collaborations

Irene Valenzuela 2 collaborations

Angela Peron 2 collaborations

Andrea Superti-Furga 2 collaborations

Christine Schwienbacher 2 collaborations

Andrew A Hicks 2 collaborations

Serena Pellegrin 2 collaborations

Peter P Pramstaller 2 collaborations

Elisa Rahikkala 2 collaborations

Guillaume Jouret 2 collaborations

Pascal Vrielynck 2 collaborations

Aurora Currò 2 collaborations

Isabelle Maystadt 2 collaborations

Tinatin Tkemaladze 2 collaborations

Barbara Sicilian 1 collaboration

Alberto Sensi 1 collaboration

Andrea Ciorba 1 collaboration

Elona Cama 1 collaboration

Pietro Scimemi 1 collaboration

Rosamaria Santarelli 1 collaboration

Valentina Serpieri 1 collaboration

Giulia Mortarini 1 collaboration

Hailey Loucks 1 collaboration

Tommaso Biagini 1 collaboration

Alessia Micalizzi 1 collaboration

Ilaria Palmieri 1 collaboration

Jennifer C Dempsey 1 collaboration

Fulvio D'Abrusco 1 collaboration

Concetta Mazzotta 1 collaboration

Enrico Silvio Bertini 1 collaboration

Eugen Boltshauser 1 collaboration

Knut Brockmann 1 collaboration

Nardo Nardocci 1 collaboration

Rita Fischetto 1 collaboration

Emanuele Agolini 1 collaboration

Antonio Novelli 1 collaboration

Alfonso Romano 1 collaboration

Pietro Strisciuglio 1 collaboration

Simone Gana 1 collaboration

Tommaso Mazza 1 collaboration

Dan Doherty 1 collaboration

Ilse Meerschaut 1 collaboration

Shana De Coninck 1 collaboration

Wouter Steyaert 1 collaboration

Angela Barnicoat 1 collaboration

Siren Berland 1 collaboration

Edward M Blair 1 collaboration

Jeroen Breckpot 1 collaboration

Anna de Burca 1 collaboration

Anne Destrée 1 collaboration

Sixto García-Miñaúr 1 collaboration

Andrew J Green 1 collaboration

Bernadette C Hanna 1 collaboration

Kathelijn Keymolen 1 collaboration

Marije Koopmans 1 collaboration

Melissa Lees 1 collaboration

Cheryl Longman 1 collaboration

Sally Ann Lynch 1 collaboration

Alison M Male 1 collaboration

Fiona McKenzie 1 collaboration

Isabelle Migeotte 1 collaboration

Ercan Mihci 1 collaboration

Banu Nur 1 collaboration

Florence Petit 1 collaboration

Juliette Piard 1 collaboration

Frank S Plasschaert 1 collaboration

Anita Rauch 1 collaboration

Pascale Ribaï 1 collaboration

Iratxe Salcedo Pacheco 1 collaboration

Irene Stolte-Dijkstra 1 collaboration

Vinod Varghese 1 collaboration

Pradeep C Vasudevan 1 collaboration

Emma Wakeling 1 collaboration

Carina Wallgren-Pettersson 1 collaboration

Paul Coucke 1 collaboration

Anne De Paepe 1 collaboration

Daniël De Wolf 1 collaboration

Sofie Symoens 1 collaboration

Bert Callewaert 1 collaboration

Maria C Aspromonte 1 collaboration

Mariagrazia Bellini 1 collaboration

Alessandra Gasparini 1 collaboration

Marco Carraro 1 collaboration

Stefania Boni 1 collaboration

Ombretta Carlet 1 collaboration

Susanna Negrin 1 collaboration

Isabella Mammi 1 collaboration

Donatella Milani 1 collaboration

Stefano Sartori 1 collaboration

Irene Toldo 1 collaboration

Fiorenza Soli 1 collaboration

Licia Turolla 1 collaboration

Cristina Marino-Buslje 1 collaboration

Silvio C E Tosatto 1 collaboration

Maria Solaki 1 collaboration

Britta Baumann 1 collaboration

Peggy Reuter 1 collaboration

Sten Andreasson 1 collaboration

Isabelle Audo 1 collaboration

Carmen Ayuso 1 collaboration

Ghassan Balousha 1 collaboration

David Birch 1 collaboration

Pierre Bitoun 1 collaboration

Delphine Blain 1 collaboration

Beatrice Bocquet 1 collaboration

Kari Branham 1 collaboration

Jaume Català-Mora 1 collaboration

Elfride De Baere 1 collaboration

Helene Dollfus 1 collaboration

Mohammed Falana 1 collaboration

Roberto Giorda 1 collaboration

Irina Golovleva 1 collaboration

Irene Gottlob 1 collaboration

John R Heckenlively 1 collaboration

Samuel G Jacobson 1 collaboration

Kaylie Jones 1 collaboration

Herbert Jägle 1 collaboration

Andreas R Janecke 1 collaboration

Ulrich Kellner 1 collaboration

Petra Liskova 1 collaboration

Birgit Lorenz 1 collaboration

Loreto Martorell-Sampol 1 collaboration

André Messias 1 collaboration

Isabelle Meunier 1 collaboration

Fernanda Belga Ottoni Porto 1 collaboration

Eleni Papageorgiou 1 collaboration

Astrid S Plomp 1 collaboration

Thomy J L de Ravel 1 collaboration

Charlotte M Reiff 1 collaboration

Agnes B Renner 1 collaboration

Thomas Rosenberg 1 collaboration

Günther Rudolph 1 collaboration

Roberto Salati 1 collaboration

E Cumhur Sener 1 collaboration

Paul A Sieving 1 collaboration

Elias I Traboulsi 1 collaboration

Stephen H Tsang 1 collaboration

Balázs Varsanyi 1 collaboration

Richard G Weleber 1 collaboration

Ditta Zobor 1 collaboration

Katarina Stingl 1 collaboration

Bernd Wissinger 1 collaboration

Susanne Kohl 1 collaboration

Bettina Härter 1 collaboration

Daniela Karall 1 collaboration

Ekkehard Lausch 1 collaboration

Gisela Schweigmann 1 collaboration

Sabine Scholl-Bürgi 1 collaboration

Francisco S Domingues 1 collaboration

Eva König 1 collaboration

Claudia B Volpato 1 collaboration

Anne Picard 1 collaboration

Chiara Cantaloni 1 collaboration

Deborah Mascalzoni 1 collaboration

Peter Lackner 1 collaboration

André Heimbach 1 collaboration

Per Hoffmann 1 collaboration

Lucio Parmeggiani 1 collaboration

Gianluca Casara 1 collaboration

Valentina Guida 1 collaboration

Francesca Piceci Sparascio 1 collaboration

Laura Bernardini 1 collaboration

Francesco Pancheri 1 collaboration

Daniela Melis 1 collaboration

Dario Cocciadiferro 1 collaboration

Mario Pagnoni 1 collaboration

Marianna Puzzo 1 collaboration

Marina Goldoni 1 collaboration

Chiara Barone 1 collaboration

Hossein Hozhabri 1 collaboration

Carolina Putotto 1 collaboration

Maria Grazia Giuffrida 1 collaboration

Silvana Briuglia 1 collaboration

Orazio Palumbo 1 collaboration

Sebastiano Bianca 1 collaboration

Ariana Kariminejad 1 collaboration

Francesca Forzano 1 collaboration

Leila Baghernajad Salehi 1 collaboration

Teresa Mattina 1 collaboration

Francesco Brancati 1 collaboration

Marco Castori 1 collaboration

Massimo Carella 1 collaboration

Maria Teresa Fadda 1 collaboration

Giorgio Iannetti 1 collaboration

Bruno Dallapiccola 1 collaboration

Maria Cristina Digilio 1 collaboration

Bruno Marino 1 collaboration

Marco Tartaglia 1 collaboration

Alessandro De Luca 1 collaboration

Lorenzo Loberti 1 collaboration

Lucia Pia Bruno 1 collaboration

Stefania Granata 1 collaboration

Gabriella Doddato 1 collaboration

Sara Resciniti 1 collaboration

Francesca Fava 1 collaboration

Michele Carullo 1 collaboration

Leonie A Menke 1 collaboration

Lukáš Ryba 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Amaia Lasa-Aranzasti 1 collaboration

Anna Maria Cueto-González 1 collaboration

Laura Trujillano 1 collaboration

Eduardo F Tizzano 1 collaboration

Alessandro Mauro Spinelli 1 collaboration

Irene Bruno 1 collaboration

Diego Lopergolo 1 collaboration

Filippo Maria Santorelli 1 collaboration

Constantia Aristidou 1 collaboration

George A Tanteles 1 collaboration

Tiia Reimand 1 collaboration

Helen Lokke 1 collaboration

Katrin Õunap 1 collaboration

Maria K Haanpää 1 collaboration

Andrea Holubová 1 collaboration

Veronika Zoubková 1 collaboration

Martin Schwarz 1 collaboration

Riina Žordania 1 collaboration

Kai Muru 1 collaboration

Laura Roht 1 collaboration

Annika Tihveräinen 1 collaboration

Rita Teek 1 collaboration

Ulvi Thomson 1 collaboration

Isis Atallah 1 collaboration

Sabrina Buoni 1 collaboration

Roberto Canitano 1 collaboration

Valeria Scandurra 1 collaboration

Annalisa Rossetti 1 collaboration

Salvatore Grosso 1 collaboration

Margherita Baldassarri 1 collaboration

Maria Antonietta Mencarelli 1 collaboration

Caterina Lo Rizzo 1 collaboration

Mirella Bruttini 1 collaboration

Francesca Mari 1 collaboration

Francesca Ariani 1 collaboration

Alessandra Renieri 1 collaboration

Anna Maria Pinto 1 collaboration

Manuela Lanzafame 1 collaboration

Tiziana Nardo 1 collaboration

Roberta Ricotti 1 collaboration

Chiara Pantaleoni 1 collaboration

Mary A Thomas 1 collaboration

Miria Stefanini 1 collaboration

Donata Orioli 1 collaboration

Elena Botta 1 collaboration

Chiara Gagliardi 1 collaboration

Patrizia Desalvo 1 collaboration

Livio Provenzi 1 collaboration

Enrico Bertini 1 collaboration

Maria Teresa Bonati 1 collaboration

Marilena Briguglio 1 collaboration

Maria Teresa Dotti 1 collaboration

Lucio Giordano 1 collaboration

Claudio Macaluso 1 collaboration

Isabella Moroni 1 collaboration

Sara Nuovo 1 collaboration

Margherita Santucci 1 collaboration

L Parmeggiani 1 collaboration

F Stanzial 1 collaboration

E Menna 1 collaboration

E Boni 1 collaboration

F Manzoni 1 collaboration

F Benedicenti 1 collaboration

S Pellegrin 1 collaboration

Cecilia Cattelani 1 collaboration

Ingrid Battistella 1 collaboration

Francesca Di Leva 1 collaboration

Giulia Fioravanti 1 collaboration

Francesca Fanelli 1 collaboration

Luciano Conti 1 collaboration

Corrado Corti 1 collaboration

Denise Drongitis 1 collaboration

Lucia Verrillo 1 collaboration

Meriel McEntagart 1 collaboration

Laura Licchetta 1 collaboration

Robertino Dilena 1 collaboration

Claudia Ciaccio 1 collaboration

Silvia Esposito 1 collaboration

Vincenzo Leuzzi 1 collaboration

Annalaura Torella 1 collaboration

Demetrio Baldo 1 collaboration

Fortunato Lonardo 1 collaboration

Giulia Bonato 1 collaboration

Renata Posmyk 1 collaboration

Ewa Kaczorowska 1 collaboration

Miryam Carecchio 1 collaboration

Monika Gos 1 collaboration

Sylwia Rzońca-Niewczas 1 collaboration

Maria Giuseppina Miano 1 collaboration

Hannah Grimes 1 collaboration

Elke de Boer 1 collaboration

Morten Krogh Herlin 1 collaboration

Rebekka Staal Dahl 1 collaboration

Ida Charlotte Bay Lund 1 collaboration

Michael Bayat 1 collaboration

Anneli Clea Skjelmose Bolund 1 collaboration

Cathrine Elisabeth Gjerulfsen 1 collaboration

Pernille Axél Gregersen 1 collaboration

Monica Zilmer 1 collaboration

Stefan Juhl 1 collaboration

Katarzyna Cebula 1 collaboration

Aglaia Vignoli 1 collaboration

Rosa Maria Alfano 1 collaboration

Ho-Ming Luk 1 collaboration

Ella Zurita 1 collaboration

Lara Heuft 1 collaboration

Franziska Schnabel 1 collaboration

Andreas Busche 1 collaboration

Hermine Elisabeth Veenstra-Knol 1 collaboration

Konrad Platzer 1 collaboration

Charlotte Wilhelmina Ockeloen 1 collaboration

Himanshu Goel 1 collaboration

Karen Jaqueline Low 1 collaboration

Affiliations

Publications (15)

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.

A clinical scoring system for congenital contractural arachnodactyly.

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.

Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.

Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.

Natural history of KBG syndrome in a large European cohort.

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.

Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.

Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a

Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Natural history of adults with KBG syndrome: a physician-reported experience.

Réseau de co-auteurs