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Joint, bone, spine : revue du rhumatisme, 2023-07, Vol.90 (4), p.105547-105547, Article 105547
2023
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Nature genetics, 2014-01, Vol.46 (1), p.70-76
- Sousa, Sérgio B
- Jenkins, Dagan
- Chanudet, Estelle
- Tasseva, Guergana
- Ishida, Miho
- Anderson, Glenn
- Docker, James
- Ryten, Mina
- Sa, Joaquim
- Saraiva, Jorge M
- Barnicoat, Angela
- Scott, Richard
- Calder, Alistair
- Wattanasirichaigoon, Duangrurdee
- Chrzanowska, Krystyna
- Simandlová, Martina
- Van Maldergem, Lionel
- Stanier, Philip
- Beales, Philip L
- Vance, Jean E
- Moore, Gudrun E
2014
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Human molecular genetics, 2023-04, Vol.32 (9), p.1429-1438
2023
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Rheumatology (Oxford, England), 2022-11, Vol.61 (11), p.e356-e357
2022
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Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-293, Article 293
2022
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American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.302-314
2014
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American journal of human genetics, 2017-02, Vol.100 (2), p.281-296
- Oud, Machteld M.
- Tuijnenburg, Paul
- Hempel, Maja
- van Vlies, Naomi
- Ren, Zemin
- Ferdinandusse, Sacha
- Jansen, Machiel H.
- Santer, René
- Johannsen, Jessika
- Bacchelli, Chiara
- Alders, Marielle
- Li, Rui
- Davies, Rosalind
- Dupuis, Lucie
- Cale, Catherine M.
- Wanders, Ronald J.A.
- Pals, Steven T.
- Ocaka, Louise
- James, Chela
- Müller, Ingo
- Lehmberg, Kai
- Strom, Tim
- Engels, Hartmut
- Williams, Hywel J.
- Beales, Phil
- Roepman, Ronald
- Dias, Patricia
- Brunner, Han G.
- Cobben, Jan-Maarten
- Hall, Christine
- Hartley, Taila
- Le Quesne Stabej, Polona
- Mendoza-Londono, Roberto
- Davies, E. Graham
- de Sousa, Sérgio B.
- Lessel, Davor
- Arts, Heleen H.
- Kuijpers, Taco W.
2017
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Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.219-219
2023
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Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-318, Article 318
2022
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Clinical rheumatology, 2023-11, Vol.42 (11), p.3173-3174
2023
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European journal of medical genetics, 2024-04, Vol.68, p.104913, Article 104913
2024
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American journal of human genetics, 2019-10, Vol.105 (4), p.836-843
- Moosa, Shahida
- Yamamoto, Guilherme L.
- Garbes, Lutz
- Keupp, Katharina
- Beleza-Meireles, Ana
- Moreno, Carolina Araujo
- Valadares, Eugenia Ribeiro
- de Sousa, Sérgio B.
- Maia, Sofia
- Saraiva, Jorge
- Honjo, Rachel S.
- Kim, Chong Ae
- Cabral de Menezes, Hamilton
- Lausch, Ekkehart
- Lorini, Pablo Villavicencio
- Lamounier, Arsonval
- Carniero, Tulio Canella Bezerra
- Giunta, Cecilia
- Rohrbach, Marianne
- Janner, Marco
- Semler, Oliver
- Beleggia, Filippo
- Li, Yun
- Yigit, Gökhan
- Reintjes, Nadine
- Altmüller, Janine
- Nürnberg, Peter
- Cavalcanti, Denise P.
- Zabel, Bernhard
- Warman, Matthew L.
- Bertola, Debora R.
- Wollnik, Bernd
- Netzer, Christian
2019
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American journal of human genetics, 2014-11, Vol.95 (5), p.611-621
- Thomas, Anna C.
- Williams, Hywel
- Setó-Salvia, Núria
- Bacchelli, Chiara
- Jenkins, Dagan
- O’Sullivan, Mary
- Mengrelis, Konstantinos
- Ishida, Miho
- Ocaka, Louise
- Chanudet, Estelle
- James, Chela
- Lescai, Francesco
- Anderson, Glenn
- Morrogh, Deborah
- Ryten, Mina
- Duncan, Andrew J.
- Pai, Yun Jin
- Saraiva, Jorge M.
- Ramos, Fabiana
- Farren, Bernadette
- Saunders, Dawn
- Vernay, Bertrand
- Gissen, Paul
- Straatmaan-Iwanowska, Anna
- Baas, Frank
- Wood, Nicholas W.
- Hersheson, Joshua
- Houlden, Henry
- Hurst, Jane
- Scott, Richard
- Bitner-Glindzicz, Maria
- Moore, Gudrun E.
- Sousa, Sérgio B.
- Stanier, Philip
2014
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PLoS genetics, 2011-04, Vol.7 (4), p.e1002050
- Bowen, Margot E
- Boyden, Eric D
- Holm, Ingrid A
- Campos-Xavier, Belinda
- Bonafé, Luisa
- Superti-Furga, Andrea
- Ikegawa, Shiro
- Cormier-Daire, Valerie
- Bovée, Judith V
- Pansuriya, Twinkal C
- de Sousa, Sérgio B
- Savarirayan, Ravi
- Andreucci, Elena
- Vikkula, Miikka
- Garavelli, Livia
- Pottinger, Caroline
- Ogino, Toshihiko
- Sakai, Akinori
- Regazzoni, Bianca M
- Wuyts, Wim
- Sangiorgi, Luca
- Pedrini, Elena
- Zhu, Mei
- Kozakewich, Harry P
- Kasser, James R
- Seidman, Jon G
- Kurek, Kyle C
- Warman, Matthew L
- Wilkie, Andrew O. M.
2011
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Advances in therapy, 2024, Vol.41 (1), p.198-214
- Semler, Oliver
- Cormier-Daire, Valérie
- Lausch, Ekkehart
- Bober, Michael B.
- Carroll, Ricki
- Sousa, Sérgio B.
- Deyle, David
- Faden, Maha
- Hartmann, Gabriele
- Huser, Aaron J.
- Legare, Janet M.
- Mohnike, Klaus
- Rohrer, Tilman R.
- Rutsch, Frank
- Smith, Pamela
- Travessa, Andre M.
- Verardo, Angela
- White, Klane K.
- Wilcox, William R.
- Hoover-Fong, Julie
2024
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Human mutation, 2017-12, Vol.38 (12), p.1731-1739
2017
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Journal of paediatrics and child health, 2022-07, Vol.58 (7), p.1262-1264
2022
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European journal of medical genetics, 2023-11, Vol.66 (11), p.104867-104867, Article 104867
2023
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PLoS genetics, 2011-07, Vol.7 (7), p.e1002114-e1002114
- Rainger, Joe
- van Beusekom, Ellen
- Ramsay, Jacqueline K
- McKie, Lisa
- Al-Gazali, Lihadh
- Pallotta, Rosanna
- Saponari, Anita
- Branney, Peter
- Fisher, Malcolm
- Morrison, Harris
- Bicknell, Louise
- Gautier, Philippe
- Perry, Paul
- Sokhi, Kishan
- Sexton, David
- Bardakjian, Tanya M
- Schneider, Adele S
- Elcioglu, Nursel
- Ozkinay, Ferda
- Koenig, Rainer
- Mégarbané, Andre
- Semerci, C Nur
- Khan, Ayesha
- Zafar, Saemah
- Hennekam, Raoul
- Sousa, Sérgio B
- Ramos, Lina
- Garavelli, Livia
- Furga, Andrea Superti
- Wischmeijer, Anita
- Jackson, Ian J
- Gillessen-Kaesbach, Gabriele
- Brunner, Han G
- Wieczorek, Dagmar
- van Bokhoven, Hans
- Fitzpatrick, David R
- Wilkie, Andrew O. M.
2011
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American journal of medical genetics. Part A, 2018-03, Vol.176 (3), p.668-675
2018
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EClinicalMedicine, 2023-11, Vol.65, p.102258-102258, Article 102258
- Savarirayan, Ravi
- Hoernschemeyer, Daniel G.
- Ljungberg, Merete
- Zarate, Yuri A.
- Bacino, Carlos A.
- Bober, Michael B.
- Legare, Janet M.
- Högler, Wolfgang
- Quattrin, Teresa
- Abuzzahab, M. Jennifer
- Hofman, Paul L.
- White, Klane K.
- Ma, Nina S.
- Schnabel, Dirk
- Sousa, Sérgio B.
- Mao, Meng
- Smith, Alden
- Chakraborty, Mukta
- Giwa, Adebola
- Winding, Bent
- Volck, Birgitte
- Shu, Aimee D.
- McDonnell, Ciara
2023
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American journal of medical genetics. Part A, 2009-08, Vol.149A (8), p.1628-1640
- Sousa, Sérgio B.
- Abdul-Rahman, Omar A.
- Bottani, Armand
- Cormier-Daire, Valérie
- Fryer, Alan
- Gillessen-Kaesbach, Gabriele
- Horn, Denise
- Josifova, Dragana
- Kuechler, Alma
- Lees, Melissa
- MacDermot, Kay
- Magee, Alex
- Morice-Picard, Fanny
- Rosser, Elizabeth
- Sarkar, Ajoy
- Shannon, Nora
- Stolte-Dijkstra, Irene
- Verloes, Alain
- Wakeling, Emma
- Wilson, Louise
- Hennekam, Raoul C.M.
2009
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Nature genetics, 2012-04, Vol.44 (4), p.445-449
- VAN HOUDT, Jeroen K. J
- NOWAKOWSKA, Beata Anna
- CASTORI, Marco
- CORMIER-DAIRE, Valérie
- DEARDORFF, Matthew A
- FILGES, Isabel
- FRYER, Alan
- FRYNS, Jean-Pierre
- GANA, Simone
- GARAVELLI, Livia
- GILLESSEN-KAESBACH, Gabriele
- HALL, Bryan D
- SOUSA, Sérgio B
- HORN, Denise
- HUYLEBROECK, Danny
- KLAPECKI, Jakub
- KRAJEWSKA-WALASEK, Malgorzata
- KUECHLER, Alma
- LINES, Matthew A
- MAAS, Saskia
- MACDERMOT, Kay D
- MCKEE, Shane
- MAGEE, Alex
- VAN SCHAIK, Barbera D. C
- MAN, Stella A.de
- MOREAU, Yves
- MORICE-PICARD, Fanny
- OBERSZTYN, Ewa
- PILCH, Jacek
- ROSSER, Elizabeth
- SHANNON, Nora
- STOLTE-DIJKSTRA, Irene
- VAN DIJCK, Patrick
- VILAIN, Catheline
- SEUNTJENS, Eve
- VOGELS, Annick
- WAKELING, Emma
- WIECZOREK, Dagmar
- WILSON, Louise
- ZUFFARDI, Orsetta
- KAMPEN, Antoine H.c Van
- DEVRIENDT, Koenraad
- HENNEKAM, Raoul
- ROBERT VERMEESCH, Joris
- AVONCE, Nelson
- SIFRIM, Alejandro
- ABDUL-RAHMAN, Omar A
- DEN BOOGAARD, Marie-José H.van
- BOTTANI, Armand
2012
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American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2401-2406
2013
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Nature (London), 2018-05, Vol.557 (7706), p.564-569
- Szenker-Ravi, Emmanuelle
- Altunoglu, Umut
- Leushacke, Marc
- Bosso-Lefèvre, Célia
- Khatoo, Muznah
- Thi Tran, Hong
- Naert, Thomas
- Noelanders, Rivka
- Hajamohideen, Amin
- Beneteau, Claire
- de Sousa, Sergio B
- Karaman, Birsen
- Latypova, Xenia
- Başaran, Seher
- Yücel, Esra Börklü
- Tan, Thong Teck
- Vlaminck, Lena
- Nayak, Shalini S
- Shukla, Anju
- Girisha, Katta Mohan
- Le Caignec, Cédric
- Soshnikova, Natalia
- Uyguner, Zehra Oya
- Vleminckx, Kris
- Barker, Nick
- Kayserili, Hülya
- Reversade, Bruno
2018
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