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Didier Lacombe,Agnès Bloch‐Zupan,Cecilie Bredrup, Edward H. Cooper,Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza,Vanesa López González,Leonie A. Menke, Donatella Milani,Francesco Saettini, Cathy A. Stevens,Lloyd Tooke, Julie van der Zee,Maria van Genderen,Julien Van‐Gils,Jane Waite,Jean‐Louis Adrien, Oliver Bartsch,Pierre Bitoun,Antonia Bouts,Anna M. Cueto‐González,Elena Domínguez‐Garrido, Floor Duijkers, Patricia Fergelot,Elizabeth Halstead,Sylvia Huisman,Camilla Meossi, Jo Mullins,Sarah M. Nikkel,Chris Oliver,Elisabetta Prada, Alessandra Rei,Ilka Riddle,Cristina Rodriguez-Fonseca, Rebeca Rodríguez Pena, J. M. Russell, Alicia Saba,Fernando Santos‐Simarro,Brittany Simpson, David W. Smith,Markus F. Stevens,Katalin Szakszon,Emmanuelle Taupiac, Nadia Totaro,Irene Valenzuela,Daniëlle van der Kaay, Michiel P. van Wijk,Klea Vyshka,Susan Wiley, Raoul C. M. Hennekam
Journal of medical geneticsno. 6 (2024): 503-519
EUROPEAN JOURNAL OF PEDIATRICSno. 5 (2024): 2421-2429
Didier Lacombe,Agnes Bloch-Zupan,Cecilie Bredrup,Edward B. Cooper,Sofia Douzgou Houge,Sixto Garcia-Minaur,Hulya Kayserili,Lidia Larizza,Vanesa Lopez Gonzalez,Leonie A. Menke,Donatella Milani,Francesco Saettini,Cathy A. Stevens,Lloyd Tooke, Jill A. van der Zee,Maria M. Van Genderen,Julien Van-Gils,Jane Waite,Jean-Louis Adrien,Oliver Bartsch,Pierre Bitoun,Antonia H. M. Bouts,Anna M. Cueto-Gonzalez,Elena Dominguez-Garrido,Floor A. Duijkers,Patricia Fergelot, Elisabeth Halstead,Sylvia A. Huisman,Camilla Meossi, Jo Mullins,Sarah M. Nikkel,Chris Oliver,Elisabetta Prada, Alessandra Rei,Ilka Riddle,Cristina Rodriguez-Fonseca, Rebecca Rodriguez Pena, Janet Russell, Alicia Saba,Fernando Santos-Simarro,Brittany N. Simpson,David F. Smith,Markus F. Stevens,Katalin Szakszon,Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Danielle C. M. van der Kaay, Michiel P. Van Wijk,Klea Vyshka,Susan Wiley,Raoul C. Hennekam
Didier Lacombe,Agnes Bloch-Zupan,Cecilie Bredrup, Edward Cooper,Sofia Douzgou Houge,Sixto Garcia-Minaur,Hulya Kayserili,Lidia Larizza,Vanesa Lopez Gonzalez,Leonie Menke,Donatella Milani,Francesco Saettini,Cathy Stevens,Lloyd Tooke, Jill van der Zee,Maria van Genderen,Julien Van Gils,Jane Waite,Jean-Louis Adrien,Oliver Bartsch,Pierre Bitoun,Antonia Bouts,Anna Maria Cueto-Gonzalez,Elena Dominguez-Garrido,Floor Duijkers,Patricia Fergelot,Elizabeth Halstead,Sylvia Huisman,Camilla Meossi, Jo Mullins,Sarah Nikkel,Chris Oliver,Elisabetta Prada,Ilka Riddle,Cristina Rodriguez-Fonseca, Rebecca Rodriguez Pena, Janet Dell'Oro Russell, Alicia Saba,Fernando Santos,Brittany Simpson,David Smith,Markus Stevens,Katalin Szakszon,Emmanuelle Taupiac,Irene Valenzuela Palafoll,Danielle van der Kaay,Michiel van Wijk,Klea Vyshka,Susan Wiley,Raoul Hennekam
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 740-742
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Sadegheh Haghshenas, Hidde J. Bout, Josephine M. Schijns,Michael A. Levy,Jennifer Kerkhof,Pratibha Bhai,Haley Mcconkey,Zandra A. Jenkins, Ella M. Williams,Benjamin J. Halliday,Sylvia A. Huisman,Peter Lauffer,Vivian de Waard, Laura Witteveen,Siddharth Banka,Angela F. Brady,Elena Galazzi,Julien van Gils,Anna C. E. Hurst,Frank J. Kaiser,Didier Lacombe, Antonio F. Martinez-Monseny, Patricia Fergelot, Fabiola P. Monteiro,Ilaria Parenti,Luca Persani,Fernando Santos-Simarro,Brittany N. Simpson,Marielle Alders, Stephen P. Robertson,Bekim Sadikovic,Leonie A. Menke
HUMAN GENETICS AND GENOMICS ADVANCESno. 3 (2024)
Liselot van der Laan,Peter Lauffer,Kathleen Rooney, Ananilia Silva,Sadegheh Haghshenas,Raissa Relator,Michael A. Levy,Slavica Trajkova,Sylvia A. Huisman,Emilia K. Bijlsma,Tjitske Kleefstra,Bregje W. van Bon,Ozlem Baysal,Christiane Zweier,Maria Palomares-Bralo,Jan Fischer,Katalin Szakszon,Laurence Faivre,Amelie Piton,Simone Mesman,Ron Hochstenbach,Mariet W. Elting,Johanna M. van Hagen,Astrid S. Plomp,Marcel M. A. M. Mannens,Marielle Alders,Mieke M. van Haelst,Giovanni B. Ferrero,Alfredo Brusco,Peter Henneman,David A. Sweetser,Bekim Sadikovic,Antonio Vitobello,Leonie A. Menke
HUMAN GENETICS AND GENOMICS ADVANCESno. 3 (2024)
Lorenzo Loberti,Lucia Bruno,Stefania Granata,Gabriella Doddato,Francesca Fava,Michele Carullo,Elisa Rahikkala,Guillaume Jouret,Leonie Menke,Damien Lederer,Pascal Vrie-Lynck,Lukas Ryba,Nicola Brunetti-Pierri,Amaia Lasa-Aranzasti,Anna Maria Cueto-Gonzalez,Laura Carmen Trujillano Lidon,Irene Valenzuela,Eduardo Tizzano, Alessandro Spinelli,Irene Bruno,Aurora Curro,Franco Stanzial,Francesco Benedicenti,Diego Lopergolo,Filippo Maria Santorelli,Constantia Aristidou, Georgios Tanteles,Isabelle Maystadt,Tinatin Tkemaladze,Tiia Reimand, Helen Lokke,Katrin Ounap,Maria Haanpaa,Andrea Holubova,Veronika Zoubkova,Martin Schwarz,Riina Zordania,Kai Muru,Laura Roht,Annika Tihverainen,Rita Teek,Ulvi Thomson,Margherita Baldassarri,Maria Antonietta Mencarelli,Caterina Lo Rizzo,Mirella Bruttini,Francesca Mari,Francesca Ariani,Alessandra Renieri,Anna Maria Pinto
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 460-460
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EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 465-465
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My Vuong Hermansen,Lena Lande Wekre,Ingeborg Beate Lidal,Ashlee Joan Macalino, Randall Porter,Lindsay E Smith, Hongyue Wang, Alex V. Levin,Jessica Duis,Austin Skinner,Robert P. Carson,Arnaud Gouelle,M. Annoussamy, Jill L. Silverman,Susan Apkon, Laurent Servais,James Carollo,Gabriella Gazdagh, David Hunt,A. González, Pablo Gustavo Rodríguez,Ayeshah Chaudhry,Marcos Madruga,Fleur Vansenne,Deborah Shears,Aurore Curie,Eva‐Lena Stattin, Britt‐Marie Anderlid,Slavica Trajkova, Elena Angelovska,Catherine McWilliam, Philip Wyatt, Michael P. O’Driscoll,Giles Atton, Anke Bergman,Pia Zacher, Leena Mewasingh,Antonio González-Meneses López, Olga Alonso-Luengo,Htoo A Wai, Ottilie Rohde, Pauline Boiroux,Anne Debant, Susanne Schmidt, Diana Baralle, Thomas Frazier, Robyn M. Busch,Patricia Klaas,Katherine Lachlan,Shafali Jeste,A lexander Kolevzon, Eva Loth,Jacqueline Harris,Leslie Speer, Thomas Pepper,Kristin Anthony,J. Michael Graglia,Christal G. Delagrammatikas,Sandra Bedrosian‐Sermone,Jenine Beekhuyzen,Constance Smith‐Hicks, Mustafa Şahin, Charis Eng,Antonia Y. Hardan, Mirko Uljarević,Jacquelyn Manfredo,George Capone, Lisa R. Yanek, Robert McCarter, Babette S. Zemel, Andrea Kelly, Sheela N. Magge, Sarah Wang,Lina Patel,Elise M. Sannar,Mellad Khoshnood,Natalie K. Boyd, Lorena Mendez,Noemi Alice Spinazzi,Eileen A. Quinn, Michael S. Rafii, Jonathan D. Santoro,Adenrele M. Gleason, Andrea Silveira de Souza,Emory Ryan,Angela Grochowsky, Camille Carter, Özlem Göker-Alpan, Grisel Lopez, Nahid Tayebi, Ellen Sidransky,Lisanne de Koning,Jessica Warnink‐Kavelaars,Marion van Rossum, D. K. Bosman,Leonie A. Menke, Fransiska Malfait, Rosa de Boer, Jaap Oosterlaan,Raoul Engelbert,Lies Rombaut, Petya Angelova,Vasil Velchev,N. D. Stoyanov,Slavena Atemin,Tihomir Todorov,Ivan Tourtourikov, Vanio Mitev, Албена Тодорова,Gökcen Karamık, Beyhan Tüysüz, Esra Işık, Ayşegül Yılmaz, Yasemin Alanay, Cifci Sunamak, Avci Durmusalioglu,Ferda Özkınay, Ozan Gokhan, Nuray Cetin, Elif Öztürk, Banu Mihci,Michell Lozano Chinga, Alison A. Bertuch,Zeinab Afify,Kaylee Dollerschell, Joanne W. Hsu, Tami John, Eswara A. Rao, Robert Rowe, Vijay G. Sankaran, Akiko Shimamura, David Williams,Taizo A. Nakano,Martina Siracusano,Assia Riccioni,Ilaria Frattale,Lucrezia Arturi,Caterina Dante,Cinzia Galasso, Leonardo Gialloreti,Giuseppina Conteduca,Barbara Testa,Michela Malacarne, Domenico Coviello, Luigi Mazzone, Jonathan Lukas Lühmann, Gunnar Schmidt,Bernd Auber, Katharina Anke, Oliver Bergmann, A. Brandau, St Louis, Katrin Hentze, Brigitte Eisfeld, Ruediger Schlegelberger, Dieter Klaes,Päivi Pietilä‐Effati,Jukka T. Saarinen, Eliisa Löyttyniemi,Maria Saarenhovi,Reijo Autio, Ilkka Kantola,Jirat Chenbhanich, Patompong Ungprasert, Paul T. Kröner,Mitsunori Fujino,Masami Ojima, Seiya Mizuno, Sumio Takahashi,Elise Pelgrims, Sally Ann Lynch,Laurens Hannes, Mariétte J.V. Hoffer,Cindy Melotte,Arie van Haeringen, Ann Swillen, Jeroen Breckpot,Monica H. Wojcik,Siddharth Srivastava, Pankaj B. Agrawal,Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo,Diana Carli,Michelle Caudle,Samantha Colaiacovo,Laura M. Cross, Kalliope Demetriou, Katy Drazba,Marina Dutra‐Clarke, Matthew Edwards,Casie A. Genetti, Dorothy K. Grange,Scott E. Hickey, Bertrand Isidor, Sébastien Küry,Herbert M. Lachman,Alinoë Lavillaureix,Michael D. Lyons,Carlo Marcelis,Elysa J. Marco, Julian A. Martinez‐Agosto, C. Nowak,Antonio Pizzol,Marc Planes,Eloise J. Prijoles,Evelise Riberi,Eric T. Rush,Bianca Russell,Rani Sachdev,Betsy Schmalz,David Stevenson, Kate Wilson,Sandra Jansen,Bert de Vries, Cynthia J. Curry,Nicholas A. Borja,Paulo Borjas‐Mendoza,Stephanie Bivona,LéShon Peart,Joanna Gonzalez, Brittney Johnson,Shengru Guo,Roman Yusupov,Undiagnosed Diseases Network, Güney Bademci, Mustafa Tekin,Joanna Ashworth, Sousa Abreu,Isabel Couto Guerra, Susana Almeida,Catarina Cunha, Helena Silva, Ermelinda Santos, Claire Kittock,Mohamad Saifeddine, Lisa Straight,D. Isum Ward,Anna Meroni,Silvia Kalantari,Alessia Arossa, Arsenio Spinillo,Chiara Melito, Licia Annachiara, Stefania Scatigno, E. Cesari, Giorgio Melchiori, Tessa Furione, Fabio Homfray,Katarzyna Polonis,Jaime L. Lopes,Huong Cabral,Holly E. Babcock,Laura Kline, Kaylee M. Ruiz,Stuart Schwartz,Linda Hasadsri,Ross Rowsey,Nicole L. Hoppman,Hiroshi Kurosaka,Sayuri Yamamoto,Kyoko Hirasawa,Tomoe Yanagishita,Kaoru Fujioka,Hideaki Yagasaki,Miho Nagata,Yasuki Ishihara,Ayumi Yonei, Yoshihiro Asano,Namiki Nagata,Takayuki Tsujimoto,Toshihiro Inubushi, Toshiyuki Yamamoto, Norio Sakai, Takashi Yamashiro
American journal of medical genetics Part Ano. 7 (2023): 1681-1686
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