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Science (American Association for the Advancement of Science), 2010-09, Vol.329 (5999), p.1650-1653
2010
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Biomolecules (Basel, Switzerland), 2023-10, Vol.13 (11), p.1567
- Efthymiou, Stephanie
- Lemmers, Richard J L F
- Vishnu, Venugopalan Y
- Dominik, Natalia
- Perrone, Benedetta
- Facchini, Stefano
- Vegezzi, Elisa
- Ravaglia, Sabrina
- Wilson, Lindsay
- van der Vliet, Patrick J
- Mishra, Rinkle
- Reyaz, Alisha
- Ahmad, Tanveer
- Bhatia, Rohit
- Polke, James M
- Srivastava, Mv Padma
- Cortese, Andrea
- Houlden, Henry
- van der Maarel, Silvère M
- Hanna, Michael G
- Bugiardini, Enrico
2023
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Skeletal muscle, 2017-06, Vol.7 (1), p.12-13, Article 12
2017
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American journal of human genetics, 2007-11, Vol.81 (5), p.884-894
2007
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PLoS genetics, 2010-10, Vol.6 (10), p.e1001181-e1001181
2010
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Journal of medical genetics, 2022-02, Vol.59 (2), p.180
2022
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Human molecular genetics, 2009-07, Vol.18 (13), p.2414-2430
2009
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Proceedings of the National Academy of Sciences - PNAS, 2015-07, Vol.112 (27), p.E3535-E3544
- Chen, Kelan
- Jiang Hu
- Darcy L. Moore
- Ruijie Liu
- Sarah A. Kessans
- Kelsey Breslin
- Isabelle S. Lucet
- Andrew Keniry
- Huei San Leong
- Clare L. Parish
- Douglas J. Hilton
- Richard J. L. F. Lemmers
- SilveÌre M. van der Maarel
- Peter E. Czabotar
- Renwick C. J. Dobson
- Matthew E. Ritchie
- Graham F. Kay
- James M. Murphy
- Marnie E. Blewitt
2015
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Clinical genetics, 2024-07, Vol.106 (1), p.13-26
- Giardina, Emiliano
- Camaño, Pilar
- Burton‐Jones, Sarah
- Ravenscroft, Gina
- Henning, Franclo
- Magdinier, Frederique
- Stoep, Nienke
- Vliet, Patrick J.
- Bernard, Rafaëlle
- Tomaselli, Pedro J.
- Davis, Mark R.
- Nishino, Ichizo
- Oflazer, Piraye
- Race, Valerie
- Vishnu, Venugopalan Y.
- Williams, Victoria
- Sobreira, Cláudia F. R.
- Maarel, Silvere M.
- Moore, Steve A.
- Voermans, Nicol C.
- Lemmers, Richard J. L. F.
2024
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Human molecular genetics, 2022-03, Vol.31 (5), p.748-760
- Lemmers, Richard J L F
- van der Vliet, Patrick J
- Granado, David San Leon
- van der Stoep, Nienke
- Buermans, Henk
- van Schendel, Robin
- Schimmel, Joost
- de Visser, Marianne
- van Coster, Rudy
- Jeanpierre, Marc
- Laforet, Pascal
- Upadhyaya, Meena
- van Engelen, Baziel
- Sacconi, Sabrina
- Tawil, Rabi
- Voermans, Nicol C
- Rogers, Mark
- van der Maarel, Silvère M
2022
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Journal of medical genetics, 2019-10, Vol.56 (10), p.693
- Lemmers, Richard J L F
- van der Stoep, Nienke
- Vliet, Patrick J van der
- Moore, Steven A
- San Leon Granado, David
- Johnson, Katherine
- Topf, Ana
- Straub, Volker
- Evangelista, Teresinha
- Mozaffar, Tahseen
- Kimonis, Virginia
- Shaw, Natalie D
- Selvatici, Rita
- Ferlini, Alessandra
- Voermans, Nicol
- van Engelen, Baziel
- Sacconi, Sabrina
- Tawil, Rabi
- Lamers, Meindert
- van der Maarel, Silvère M
2019
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American journal of human genetics, 2010-03, Vol.86 (3), p.364-377
2010
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Epigenetics, 2015-12, Vol.10 (12), p.1133-1142
2015
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Gut, 2013-04, Vol.62 (4), p.509-519
2013
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Nature genetics, 2003-12, Vol.35 (4), p.315-317
2003
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Neurology, 2020-06, Vol.94 (23), p.e2441
2020
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Human molecular genetics, 2014-10, Vol.23 (20), p.5342-5352
2014
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American journal of human genetics, 2013-10, Vol.93 (4), p.744-751
- Sacconi, Sabrina
- Lemmers, Richard J.L.F.
- Balog, Judit
- van der Vliet, Patrick J.
- Lahaut, Pauline
- van Nieuwenhuizen, Merlijn P.
- Straasheijm, Kirsten R.
- Debipersad, Rashmie D.
- Vos-Versteeg, Marianne
- Salviati, Leonardo
- Casarin, Alberto
- Pegoraro, Elena
- Tawil, Rabi
- Bakker, Egbert
- Tapscott, Stephen J.
- Desnuelle, Claude
- van der Maarel, Silvère M.
2013
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Annals of clinical and translational neurology, 2022-08, Vol.9 (8), p.1302-1309
- Bruels, Christine C.
- Littel, Hannah R.
- Daugherty, Audrey L.
- Stafki, Seth
- Estrella, Elicia A.
- McGaughy, Emily S.
- Truong, Don
- Badalamenti, Jonathan P.
- Pais, Lynn
- Ganesh, Vijay S.
- O'Donnell‐Luria, Anne
- Stalker, Heather J.
- Wang, Yang
- Collins, Christin
- Behlmann, Andrea
- Lemmers, Richard J. L. F.
- Maarel, Silvère M.
- Laine, Regina
- Ghosh, Partha S.
- Darras, Basil T.
- Zingariello, Carla D.
- Pacak, Christina A.
- Kunkel, Louis M.
- Kang, Peter B.
2022
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American journal of human genetics, 2004-12, Vol.75 (6), p.1124-1130
2004
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Human molecular genetics, 2019-02, Vol.28 (3), p.476-486
2019
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Chromosoma, 2007-04, Vol.116 (2), p.107-116
2007
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Neurology, 2019-05, Vol.92 (19), p.e2273
- Sacconi, Sabrina
- Briand-Suleau, Audrey
- Gros, Marilyn
- Baudoin, Christian
- Lemmers, Richard J L F
- Rondeau, Sophie
- Lagha, Nadira
- Nigumann, Pilvi
- Cambieri, Chiara
- Puma, Angela
- Chapon, Françoise
- Stojkovic, Tanya
- Vial, Christophe
- Bouhour, Françoise
- Cao, Michelangelo
- Pegoraro, Elena
- Petiot, Philippe
- Behin, Anthony
- Marc, Bras
- Eymard, Bruno
- Echaniz-Laguna, Andoni
- Laforet, Pascal
- Salviati, Leonardo
- Jeanpierre, Marc
- Cristofari, Gaël
- van der Maarel, Silvère M
2019
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Methods in molecular biology (Clifton, N.J.), 2017-01, Vol.1492, p.107
2017
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Neurology, 2017-11, Vol.89 (20), p.2057
2017
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