Alfredo Brusco

Elisa Giorgio 11 collaborations

None None 7 collaborations

Enrico Grosso 4 collaborations

Eleonora Di Gregorio 4 collaborations

Alessandro Marinaccio 4 collaborations

Adelina Brusco 4 collaborations

Silvia D'Amario 4 collaborations

Sergio Iavicoli 4 collaborations

Marco Tartaglia 4 collaborations

Giovanni Battista Ferrero 4 collaborations

Diana Carli 4 collaborations

Andrea Zonta 3 collaborations

Cecilia Mancini 3 collaborations

Alessandro Brussino 3 collaborations

Andrea Bucciarelli 3 collaborations

Daryl A Scott 3 collaborations

Andrea Ciolfi 3 collaborations

Boris Keren 3 collaborations

Lisa Pavinato 3 collaborations

Slavica Trajkova 3 collaborations

Tommaso Pippucci 3 collaborations

Silvia De Rubeis 3 collaborations

Alessandra Renieri 3 collaborations

Pietro Cortelli 3 collaborations

Valeria Giorgia Naretto 2 collaborations

Barbara Pasini 2 collaborations

Fabio Sirchia 2 collaborations

Andres Hernandez-Garcia 2 collaborations

David J Amor 2 collaborations

Miroslava Hančárová 2 collaborations

Kenjiro Kosaki 2 collaborations

Zdeněk Sedláček 2 collaborations

Tomoko Uehara 2 collaborations

Seema R Lalani 2 collaborations

Alessandro Bruselles 2 collaborations

Francesca Clementina Radio 2 collaborations

Paola Dimartino 2 collaborations

Davide Montin 2 collaborations

Alessandro Mussa 2 collaborations

Fabio Boccuni 2 collaborations

Xiaonan Zhao 2 collaborations

Jill A Rosenfeld 2 collaborations

Antonio Novelli 2 collaborations

Cecilie F Rustad 2 collaborations

Katherine Neas 2 collaborations

Giovanni B Ferrero 2 collaborations

Chad A Shaw 2 collaborations

Wendy K Chung 2 collaborations

Joseph D Buxbaum 2 collaborations

Catalina Madarnas 2 collaborations

Alicia Brusco 2 collaborations

Jill Clayton-Smith 2 collaborations

Julia Rankin 2 collaborations

Malte Spielmann 2 collaborations

Alina C Hilger 2 collaborations

Agneta Nordenskjöld 2 collaborations

Martin Promm 2 collaborations

Raimund Stein 2 collaborations

Karin Hirsch 2 collaborations

Frank-Mattias Schäfer 2 collaborations

Eberhard Schmiedeke 2 collaborations

Thomas M Boemers 2 collaborations

Martin Lacher 2 collaborations

Gundela Holmdahl 2 collaborations

David Keene 2 collaborations

Raimondo M Cervellione 2 collaborations

Massimo Di Grazia 2 collaborations

Wouter F J Feitz 2 collaborations

Carlo L M Marcelis 2 collaborations

Nadine Zwink 2 collaborations

Ekkehart Jenetzky 2 collaborations

Michael Ludwig 2 collaborations

Adrian S Woolf 2 collaborations

Benjamin Odermatt 2 collaborations

Heiko Reutter 2 collaborations

Marta Ferrero 2 collaborations

Caroline Nava 2 collaborations

Delphine Heron 2 collaborations

Henry Houlden 2 collaborations

Paola Quarello 1 collaboration

Emanuela Garelli 1 collaboration

Adriana Carando 1 collaboration

Rebecca Cillario 1 collaboration

Daniela Ferrante 1 collaboration

Paola Corti 1 collaboration

Marco Zecca 1 collaboration

Matteo Luciani 1 collaboration

Filomena Pierri 1 collaboration

Maria C Putti 1 collaboration

Maria E Cantarini 1 collaboration

Piero Farruggia 1 collaboration

Angelica Barone 1 collaboration

Simone Cesaro 1 collaboration

Giovanna Russo 1 collaboration

Franca Fagioli 1 collaboration

Irma Dianzani 1 collaboration

Ugo Ramenghi 1 collaboration

Laura Cristina Gironi 1 collaboration

Enrico Colombo 1 collaboration

Andrea Guala 1 collaboration

Francesca Zottarelli 1 collaboration

Paola Savoia 1 collaboration

Uwe Richter 1 collaboration

Kah Ying Ng 1 collaboration

Fumi Suomi 1 collaboration

Paula Marttinen 1 collaboration

Taina Turunen 1 collaboration

Christopher Jackson 1 collaboration

Anu Suomalainen 1 collaboration

Helena Vihinen 1 collaboration

Eija Jokitalo 1 collaboration

Tuula A Nyman 1 collaboration

Marita A Isokallio 1 collaboration

James B Stewart 1 collaboration

Sara Seneca 1 collaboration

Anne Lombès 1 collaboration

Robert W Taylor 1 collaboration

Brendan J Battersby 1 collaboration

Martino Bosco 1 collaboration

Nara Lygia M Sobreira 1 collaboration

Giovanni Botta 1 collaboration

Andrea Breda Klobus 1 collaboration

Stefano Valbonesi 1 collaboration

Elsa Viora 1 collaboration

Claudio Gariazzo 1 collaboration

Alberto Scarselli 1 collaboration

Yoel Gofin 1 collaboration

Laura Palmer Mackay 1 collaboration

Keren Machol 1 collaboration

Sundeep Keswani 1 collaboration

Lorraine Potocki 1 collaboration

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Paola Fortugno 1 collaboration

Marialetizia Motta 1 collaboration

Chiara Aiello 1 collaboration

Stefania Petrini 1 collaboration

Francesca Cipressa 1 collaboration

Isabella Moroni 1 collaboration

Vincenzo Leuzzi 1 collaboration

Luisa Pieroni 1 collaboration

Federica Marini 1 collaboration

Odile Boespflug Tanguy 1 collaboration

Eleonore Eymard-Pierre 1 collaboration

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Claudia Compagnucci 1 collaboration

Giovanna Zambruno 1 collaboration

Filippo M Santorelli 1 collaboration

Luisa Chiapparini 1 collaboration

Paola Francalanci 1 collaboration

Anna Livia Loizzo 1 collaboration

Gianluca Cestra 1 collaboration

Enrico Bertini 1 collaboration

Fuad Chowdhury 1 collaboration

Lei Wang 1 collaboration

Mohammed Al-Raqad 1 collaboration

Alice Baxová 1 collaboration

Šárka Bendová 1 collaboration

Elisa Biamino 1 collaboration

Oana Caluseriu 1 collaboration

Nancy J Cox 1 collaboration

Tawfiq Froukh 1 collaboration

Meral Gunay-Aygun 1 collaboration

Devon Haynes 1 collaboration

Solveig Heide 1 collaboration

George Hoganson 1 collaboration

Tadashi Kaname 1 collaboration

Kazuo Kubota 1 collaboration

Jennifer M Lemons 1 collaboration

Maria A Magriña 1 collaboration

Paul R Mark 1 collaboration

Marie T McDonald 1 collaboration

Sarah Montgomery 1 collaboration

Gina M Morley 1 collaboration

Hidenori Ohnishi 1 collaboration

Nobuhiko Okamoto 1 collaboration

David Rodriguez-Buritica 1 collaboration

Patrick Rump 1 collaboration

Krista Schatz 1 collaboration

Haley Streff 1 collaboration

Jagdeep S Walia 1 collaboration

Patricia G Wheeler 1 collaboration

Antje Wiesener 1 collaboration

Christiane Zweier 1 collaboration

Koichi Kawakami 1 collaboration

Ingrid M Wentzensen 1 collaboration

Victoria M Siu 1 collaboration

Weimin Bi 1 collaboration

Tugce B Balci 1 collaboration

Aleksandar Petlichkovski 1 collaboration

Joseph Buxbaum 1 collaboration

Roberto Keller 1 collaboration

Alice Moroni 1 collaboration

Di Gregorio Eleonora 1 collaboration

Francesco Licciardi 1 collaboration

Enrico Aidala 1 collaboration

Roberto Bordese 1 collaboration

Pace Napoleone Carlo 1 collaboration

Ferrero Giovanni Battista 1 collaboration

Bruna Maria Rondinone 1 collaboration

Karim Karimi 1 collaboration

Merel O Mol 1 collaboration

Sadegheh Haghshenas 1 collaboration

Raissa Relator 1 collaboration

Michael A Levy 1 collaboration

Jennifer Kerkhof 1 collaboration

Haley McConkey 1 collaboration

Alice Brooks 1 collaboration

Evelien Zonneveld-Huijssoon 1 collaboration

Erica H Gerkes 1 collaboration

Matthew L Tedder 1 collaboration

Lisenka Vissers 1 collaboration

Emanuela Salzano 1 collaboration

Maria Piccione 1 collaboration

Sebastian Dorin Asaftei 1 collaboration

Elena Shukarova-Angelovska 1 collaboration

Giuseppe Merla 1 collaboration

Marielle M Alders 1 collaboration

Arjan Bouman 1 collaboration

Bekim Sadikovic 1 collaboration

Dario Villalba 1 collaboration

Emiliano Navarro 1 collaboration

Amelia Matesa 1 collaboration

Andrés Brusco 1 collaboration

Virginia Morales 1 collaboration

Gastón Germán Morel Vulliez 1 collaboration

Emilio Sebastián Rositi 1 collaboration

Luciana Prieto 1 collaboration

Mauro Javier Bosso 1 collaboration

Silvana De Paoli 1 collaboration

Alejo Cotero 1 collaboration

Juan Nadur 1 collaboration

Marcela Santini 1 collaboration

Marcelo Alonso 1 collaboration

Florencia Larocca 1 collaboration

Carlos Duarte 1 collaboration

Verónica García 1 collaboration

Romina Campodónico 1 collaboration

Gabriel Musso 1 collaboration

Mariel Leingruber 1 collaboration

Aldana Soledad Morales 1 collaboration

Analía Segura 1 collaboration

María Eugenia Vallory 1 collaboration

Selva Del Carmen Pieruzzi 1 collaboration

Pablo Sebastián Pascal 1 collaboration

Eduardo Luis De Vito 1 collaboration

Amy Hardcastle 1 collaboration

Aliska M Berry 1 collaboration

Ian M Campbell 1 collaboration

Pengfei Liu 1 collaboration

Amanda E Gerard 1 collaboration

Saumya D Sisoudiya 1 collaboration

Sara Loddo 1 collaboration

Silvia Di Tommaso 1 collaboration

Maria L Dentici 1 collaboration

Rossella Capolino 1 collaboration

Maria C Digilio 1 collaboration

Ludovico Graziani 1 collaboration

Diana Wellesley 1 collaboration

Claire Beneteau 1 collaboration

Madeleine Joubert 1 collaboration

Kris Van Den Bogaert 1 collaboration

Anneleen Boogaerts 1 collaboration

Dominic J McMullan 1 collaboration

John Dean 1 collaboration

Maria G Giuffrida 1 collaboration

Laura Bernardini 1 collaboration

Vinod Varghese 1 collaboration

Nora L Shannon 1 collaboration

Rachel E Harrison 1 collaboration

Wayne W K Lam 1 collaboration

Shane McKee 1 collaboration

Peter D Turnpenny 1 collaboration

Trevor Cole 1 collaboration

Jenny Morton 1 collaboration

Jacqueline Eason 1 collaboration

Marilyn C Jones 1 collaboration

Rebecca Hall 1 collaboration

Michael Wright 1 collaboration

Karen Horridge 1 collaboration

Jack M Fu 1 collaboration

F Kyle Satterstrom 1 collaboration

Minshi Peng 1 collaboration

Harrison Brand 1 collaboration

Ryan L Collins 1 collaboration

Shan Dong 1 collaboration

Brie Wamsley 1 collaboration

Lambertus Klei 1 collaboration

Lily Wang 1 collaboration

Stephanie P Hao 1 collaboration

Christine R Stevens 1 collaboration

Caroline Cusick 1 collaboration

Mehrtash Babadi 1 collaboration

Eric Banks 1 collaboration

Brett Collins 1 collaboration

Sheila Dodge 1 collaboration

Stacey B Gabriel 1 collaboration

Laura Gauthier 1 collaboration

Samuel K Lee 1 collaboration

Lindsay Liang 1 collaboration

Alicia Ljungdahl 1 collaboration

Behrang Mahjani 1 collaboration

Laura Sloofman 1 collaboration

Andrey N Smirnov 1 collaboration

Mafalda Barbosa 1 collaboration

Catalina Betancur 1 collaboration

Brian H Y Chung 1 collaboration

Edwin H Cook 1 collaboration

Michael L Cuccaro 1 collaboration

Enrico Domenici 1 collaboration

J Jay Gargus 1 collaboration

Gail E Herman 1 collaboration

Irva Hertz-Picciotto 1 collaboration

Patricia Maciel 1 collaboration

Dara S Manoach 1 collaboration

Maria Rita Passos-Bueno 1 collaboration

Antonio M Persico 1 collaboration

James S Sutcliffe 1 collaboration

Flora Tassone 1 collaboration

Elisabetta Trabetti 1 collaboration

Gabriele Campos 1 collaboration

Simona Cardaropoli 1 collaboration

Marcus C Y Chan 1 collaboration

Chiara Fallerini 1 collaboration

Ana Cristina Girardi 1 collaboration

Emily Hansen-Kiss 1 collaboration

So Lun Lee 1 collaboration

Carla Lintas 1 collaboration

Yunin Ludena 1 collaboration

Rachel Nguyen 1 collaboration

Margaret Pericak-Vance 1 collaboration

Isaac N Pessah 1 collaboration

Rebecca J Schmidt 1 collaboration

Moyra Smith 1 collaboration

Claudia I S Costa 1 collaboration

Jaqueline Y T Wang 1 collaboration

Mullin H C Yu 1 collaboration

David J Cutler 1 collaboration

Mark J Daly 1 collaboration

Bernie Devlin 1 collaboration

Kathryn Roeder 1 collaboration

Stephan J Sanders 1 collaboration

Michael E Talkowski 1 collaboration

Manuela Priolo 1 collaboration

Luigi Chiriatti 1 collaboration

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Corrado Mammi 1 collaboration

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Manu Jokela 1 collaboration

Meriel McEntagart 1 collaboration

Tessa Homfray 1 collaboration

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Maria Iascone 1 collaboration

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Bjarne Udd 1 collaboration

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Emily A Huth 1 collaboration

Nichole Owen 1 collaboration

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Ida Vogel 1 collaboration

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Michael J Parker 1 collaboration

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Marc Gewillig 1 collaboration

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Alison Kraus 1 collaboration

Erina Sasaki 1 collaboration

Usha Kini 1 collaboration

Trent Burgess 1 collaboration

Tiong Y Tan 1 collaboration

Ruth Armstrong 1 collaboration

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Lindsey R Helvaty 1 collaboration

Benjamin J Landis 1 collaboration

Gabrielle C Geddes 1 collaboration

Kim L McBride 1 collaboration

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Anna Basile 1 collaboration

Ilaria Cani 1 collaboration

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Jana Henck 1 collaboration

Marjolein Breur 1 collaboration

Caterina Tonon 1 collaboration

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Foteini-Dionysia Koufi 1 collaboration

Elisa Boschetti 1 collaboration

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Lucia Manzoli 1 collaboration

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Martin B Delatycki 1 collaboration

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Marianna Bugiani 1 collaboration

Emilia Cirillo 1 collaboration

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Antonio De Rosa 1 collaboration

Carla Damiano 1 collaboration

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Rosa Maria Dellepiane 1 collaboration

Lucia A Baselli 1 collaboration

Maria Carrabba 1 collaboration

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Patrizia Bertolini 1 collaboration

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Roberta Romano 1 collaboration

Elisa Pozzi 1 collaboration

Giulio Ferrero 1 collaboration

Roberta Roncarati 1 collaboration

Manuela Ferracin 1 collaboration

Giancarlo Parenti 1 collaboration

Claudio Pignata 1 collaboration

Johanna Magdalena Rieke 1 collaboration

Rong Zhang 1 collaboration

Doreen Braun 1 collaboration

Öznur Yilmaz 1 collaboration

Anna S Japp 1 collaboration

Filipa M Lopes 1 collaboration

Michael Pleschka 1 collaboration

Sophia Schneider 1 collaboration

William G Newman 1 collaboration

Glenda M Beaman 1 collaboration

Anne-Karoline Ebert 1 collaboration

Wolfgang H Rösch 1 collaboration

Dietrich Kluth 1 collaboration

Jan-Hendrik Gosemann 1 collaboration

Magnus Anderberg 1 collaboration

Gillian Barker 1 collaboration

Göran Läckgren 1 collaboration

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Arend Bökenkamp 1 collaboration

Goedele M A Beckers 1 collaboration

Catherine E Keegan 1 collaboration

Amit Sharma 1 collaboration

Tikam Chand Dakal 1 collaboration

Lars Wittler 1 collaboration

Phillip Grote 1 collaboration

Holger Thiele 1 collaboration

Ulrich Schweizer 1 collaboration

Elisa Benetti 1 collaboration

Rossella Tita 1 collaboration

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Francesco Musacchia 1 collaboration

Annalaura Torella 1 collaboration

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Floriana Valentino 1 collaboration

Margherita Baldassarri 1 collaboration

Rosanna Asselta 1 collaboration

Mirella Bruttini 1 collaboration

Simone Furini 1 collaboration

Marco Seri 1 collaboration

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Giuseppe Matullo 1 collaboration

Francesca Mari 1 collaboration

Anna Maria Pinto 1 collaboration

Nerina Mariel Villalba 1 collaboration

Delia Soriano 1 collaboration

Martina Lorenzati 1 collaboration

Pia Rivetti di Val Cervo 1 collaboration

Manuel Cernigoj 1 collaboration

Edoardo Della Sala 1 collaboration

Anna Bartoletti Stella 1 collaboration

Massimiliano Caiazzo 1 collaboration

Sabina Capellari 1 collaboration

Luciano Conti 1 collaboration

Elena Cattaneo 1 collaboration

Annalisa Buffo 1 collaboration

Vincenzo Salpietro 1 collaboration

Christine L Dixon 1 collaboration

Hui Guo 1 collaboration

Oscar D Bello 1 collaboration

Jana Vandrovcova 1 collaboration

Stephanie Efthymiou 1 collaboration

Reza Maroofian 1 collaboration

Gali Heimer 1 collaboration

Lydie Burglen 1 collaboration

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Erin Torti 1 collaboration

Moritz Hacke 1 collaboration

Huma Tariq 1 collaboration

Estelle Colin 1 collaboration

Vincent Procaccio 1 collaboration

Pasquale Striano 1 collaboration

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Andreas Lieb 1 collaboration

Sharon Chen 1 collaboration

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Conceicao Bettencourt 1 collaboration

Roope Männikkö 1 collaboration

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Judith Armstrong-Moron 1 collaboration

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Omer Bar-Yosef 1 collaboration

Michal Tzadok 1 collaboration

Kristin G Monaghan 1 collaboration

Teresa Santiago-Sim 1 collaboration

Richard E Person 1 collaboration

Megan T Cho 1 collaboration

Rebecca Willaert 1 collaboration

Yongjin Yoo 1 collaboration

Jong-Hee Chae 1 collaboration

Yingting Quan 1 collaboration

Huidan Wu 1 collaboration

Tianyun Wang 1 collaboration

Raphael A Bernier 1 collaboration

Kun Xia 1 collaboration

Alyssa Blesson 1 collaboration

Mahim Jain 1 collaboration

Mohammad M Motazacker 1 collaboration

Bregje Jaeger 1 collaboration

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Katja Boysen 1 collaboration

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Candace T Myers 1 collaboration

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David Dyment 1 collaboration

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Cloe Llorente 1 collaboration

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Angel Carracedo 1 collaboration

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Carlo Minetti 1 collaboration

Aldo Skabar 1 collaboration

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Michael Chez 1 collaboration

Anne Tsai 1 collaboration

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Marwan Shinawi 1 collaboration

John N Constantino 1 collaboration

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Fernando Kok 1 collaboration

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Murim Choi 1 collaboration

Bruria Benzeev 1 collaboration

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Alfons Macaya 1 collaboration

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Raili Raininko 1 collaboration

Anna Lehman 1 collaboration

Mary Kay Koenig 1 collaboration

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Melissa Knight 1 collaboration

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Manas Sharma 1 collaboration

Robert Hammond 1 collaboration

William A Gahl 1 collaboration

Camilo Toro 1 collaboration

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Stefania Squadrone 1 collaboration

Paola Brizio 1 collaboration

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Nehir Edibe Kurtas 1 collaboration

Luciano Xumerle 1 collaboration

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Massimo Delledonne 1 collaboration

Krystyna Chrzanowska 1 collaboration

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Daniela Larizza 1 collaboration

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Maria Clara Bonaglia 1 collaboration

Paolo Reho 1 collaboration

Emmanouil Manolakos 1 collaboration

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Aldesia Provenzano 1 collaboration

Ahmed H Al-Rikabi 1 collaboration

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Thomas Liehr 1 collaboration

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Natasha J Brown 1 collaboration

Dawn L Earl 1 collaboration

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Sinje Geuer 1 collaboration

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Diana Johnson 1 collaboration

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E Martina Bebin 1 collaboration

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Joel Charrow 1 collaboration

Nicolas Chatron 1 collaboration

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Thomas Courtin 1 collaboration

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Martine Doco 1 collaboration

Ganka Douglas 1 collaboration

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Nicolas Guex 1 collaboration

Øystein L Holla 1 collaboration

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Jane Juusola 1 collaboration

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Lindsay Rhodes 1 collaboration

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Giuseppina Vitiello 1 collaboration

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Stefania Magri 1 collaboration

Lorenzo Nanetti 1 collaboration

Cinzia Gellera 1 collaboration

Elisa Sarto 1 collaboration

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Benedetta Ricci 1 collaboration

Roberto Fancellu 1 collaboration

Luisa Sambati 1 collaboration

Maria Grazia Bruzzone 1 collaboration

Caterina Mariotti 1 collaboration

Daniela Di Bella 1 collaboration

Franco Taroni 1 collaboration

Enrico Mingardo 1 collaboration

Glenda Beaman 1 collaboration

Philip Grote 1 collaboration

William Newman 1 collaboration

Markus Eckstein 1 collaboration

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Wolfgang Rösch 1 collaboration

Anne-Karolin Ebert 1 collaboration

Ali Tamer 1 collaboration

Federico M Torres 1 collaboration

Jose L Hernandez 1 collaboration

Philipp Erben 1 collaboration

Carlo Maj 1 collaboration

Jose M Olmos 1 collaboration

Jose A Riancho 1 collaboration

Carmen Valero 1 collaboration

Isabel C Hostettler 1 collaboration

David J Werring 1 collaboration

Johannes Schumacher 1 collaboration

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Jana Nelson 1 collaboration

Benno Ure 1 collaboration

Caroline Fortmann 1 collaboration

Daniel P Gale 1 collaboration

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Kerstin U Ludwig 1 collaboration

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Lucia P Bruno 1 collaboration

Danai Veltra 1 collaboration

Christalena Sofocleous 1 collaboration

Laurence Faivre 1 collaboration

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Marjon A van Slegtenhorst 1 collaboration

Noor Giesbertz 1 collaboration

Richard H van Jaarsveld 1 collaboration

Anna Childers 1 collaboration

R Curtis Rogers 1 collaboration

Stephen W Scherer 1 collaboration

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Affiliations

Publications (36)

A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Mitochondrial stress response triggered by defects in protein synthesis quality control.

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

Occupational impact in COVID-19 pandemic according to one year of compensation claims in Italy.

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.

Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot.

Occupational factors in the COVID-19 pandemic in Italy: compensation claims applications support establishing an occupational surveillance system.

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome caused by variants in the CTCF gene.

Epidemiology of Tracheostomized Adult Patients Admitted to Specialized Weaning Centers After Acute COVID-19.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.

Perinatal ethanol exposure affects cell populations in adult dorsal hippocampal neurogenic niche.

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

MicroRNA dysregulation in ataxia telangiectasia.

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

Anxious Behavior of Adult CD1 Mice Perinatally Exposed to Low Concentrations of Ethanol Correlates With Morphological Changes in Cingulate Cortex and Amygdala.

Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Trace elements profile in the blood of Huntington' disease patients.

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.

Temporal trend in the compensation claim applications for work-related COVID-19 in Italy.

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

Covid-19 Occupational Risk Incidence and Working Sectors Involved During the Pandemic in Italy.

Réseau de co-auteurs