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Egbert Bakker

cnrs - national institute for biology (insb)

76H指数
325论文数
2.0W被引数
收录论文 66
发表时间
Critical points for an accurate human genome analysis
err2017-06-16
err8
errOAAI
errWhite, Stefan J.; Laros, Jeroen F. J.; Bakker, Egbert; Cambon-Thomsen, Anne; Eden, Martin; Leonard, Samantha; Lochmueller, Hanns; Matthijs, Gert; Mattocks, Christopher; Patton, Simon; Payne, Katherine; Scheffer, Hans; Souche, Erica; Thomassen, Ellen; Thompson, Rachel; Traeger-Synodinos, Jan; Van Vooren, Steven; Janssen, Bart; den Dunnen, Johan T.
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European registration process for Clinical Laboratory Geneticists in genetic healthcare
err2017-03-08
err14
errOAAI
errLiehr, Thomas; Carreira, Isabel M.; Aktas, Dilek; Bakker, Egbert; Rodriguez de Alba, Marta; Coviello, Domenico A.; Florentin, Lina; Scheffer, Hans; Rincic, Martina
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Guidelines for diagnostic next-generation sequencing (vol 24, pg 2, 2016)
err2016-09-15
err55
errOAAI
errMatthijs, Gert; Souche, Erika; Alders, Marielle; Corveleyn, Anniek; Eck, Sebastian; Feenstra, Ilse; Race, Valerie; Sistermans, Erik; Sturm, Marc; Weiss, Marjan; Yntema, Helger; Bakker, Egbert; Scheffer, Hans; Bauer, Peter
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CD226 (DNAM-1) is associated with susceptibility to juvenile idiopathic arthritis
err2015-12-01
err32
PREAI
errReinards, T. H. C. M.; Albers, H. M.; Brinkman, D. M. C.; Kamphuis, S. S. M.; van Rossum, M. A. J.; Girschick, H. J.; Wouters, C.; Hoppenreijs, E. P. A. H.; Saurenmann, R. K.; Hinks, A.; Ellis, J. A.; Bakker, E.; Verduijn, W.; Slagboom, P.; Huizinga, T. W. J.; Toes, R. E. M.; Houwing-Duistermaat, J. J.; ten Cate, R.; Schilham, M. W.
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Guidelines for diagnostic next-generation sequencing
err2015-10-28
err407
errOAAI
errMatthijs, Gert; Souche, Erika; Alders, Marielle; Corveleyn, Anniek; Eck, Sebastian; Feenstra, Ilse; Race, Valerie; Sistermans, Erik; Sturm, Marc; Weiss, Marjan; Yntema, Helger; Bakker, Egbert; Scheffer, Hans; Bauer, Peter
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A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma
err2015-09-01
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errOAAI
errvan den Oever, Jessica M. E.; van Minderhout, Ivonne J. H. M.; Harteveld, Cornelis L.; den Hollander, Nicolette S.; Bakker, Egbert; van der Stoep, Nienke; Boon, Elles M. J.
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Population-based incidence and prevalence of facioscapulohumeral dystrophy
err2014-09-16
err268
errOAAI
errDeenen, Johanna C. W.; Arnts, Hisse; van der Maarel, Silvere M.; Padberg, George W.; Verschuuren, Jan J. G. M.; Bakker, Egbert; Weinreich, Stephanie S.; Verbeek, Andre L. M.; van Engelen, Baziel G. M.
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Genetic variation in VTCN1 (B7-H4) is associated with course of disease in juvenile idiopathic arthritis
err2014-06-01
err16
PREAI
errAlbers, H. M.; Reinards, T. H. C. M.; Brinkman, D. M. C.; Kamphuis, S. S. M.; van Rossum, M. A. J.; Hoppenreijs, E. P. A. H.; Girschick, H. J.; Wouters, C.; Saurenmann, R. K.; Bakker, E.; Verduijn, W.; Slagboom, P.; Huizinga, T. W. J.; Toes, R. E. M.; Houwing-Duistermaat, J. J.; ten Cate, R.; Schilham, M. W.
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TWO CANDIDATE GENE-BASED ASSOCIATION STUDIES OF ANTIPSYCHOTIC-INDUCED MOVEMENT DISORDERS IN LONG-STAY PSYCHIATRIC PATIENTS: PROSPECTIVE STUDIES
err2014-04-01
err0
PREAI
errBakker, P. R.; Bakker, Egbert; Al Hadithy, Asmar F. Y.; Amin, Najaf; van Duijn, Cornelia M.; van Os, Jim; van Harten, Peter N.
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The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1FSHD2基因SMCHD1是受FSHD1影响的家庭中疾病严重程度的调节剂
err2013-10-01
err144
errOAAI
errSacconi, 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, Silvere M.
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Successful Noninvasive Trisomy 18 Detection Using Single Molecule Sequencing
err2013-04-01
err11
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errvan den Oever, Jessica M. E.; Balkassmi, Sahila; Johansson, Lennart F.; van Scheltema, Phebe N. Adama; Suijkerbuijk, Ron F.; Hoffer, Mariette J. V.; Sinke, Richard J.; Bakker, Egbert; Sikkema-Raddatz, Birgit; Boon, Elles M. J.
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Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers
err2012-10-16
err102
PREAI
errvan Lierop, Antoon H.; Hamdy, Neveen A. T.; van Egmond, Martje E.; Bakker, Egbert; Dikkers, Freek G.; Papapoulos, Socrates E.
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An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy
err2012-06-06
err35
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errHelderman-van den Enden, Apollonia T. J. M.; Madan, Kamlesh; Breuning, Martijn H.; van der Hout, Annemieke H.; Bakker, Egbert; de Die-Smulders, Christine E. M.; Ginjaar, Hendrika B.
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Single Molecule Sequencing of Free DNA from Maternal Plasma for Noninvasive Trisomy 21 Detection
err2012-04-01
err59
errOAAI
errvan den Oever, Jessica M. E.; Balkassmi, Sahila; Verweij, E. Joanne; van Iterson, Maarten; van Scheltema, Phebe N. Adama; Oepkes, Dick; van Lith, Jan M. M.; Hoffer, Mariette J. V.; den Dunnen, Johan T.; Bakker, Egbert; Boon, Elles M. J.
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The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe
err2012-03-28
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errHastings, Ros; de Wert, Guido; Fowler, Brian; Krawczak, Michael; Vermeulen, Eric; Bakker, Egbert; Borry, Pascal; Dondorp, Wybo; Nijsingh, Niels; Barton, David; Schmidtke, Joerg; van El, Carla G.; Vermeesch, Joris; Stol, Yrrah; Howard, Heidi Carmen; Cornel, Martina C.
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The determinants of periorbital skin ageing in participants of a melanoma case-control study in the UK
err2011-11-01
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errSuppa, M.; Elliott, F.; Mikeljevic, J. S.; Mukasa, Y.; Chan, M.; Leake, S.; Karpavicius, B.; Haynes, S.; Bakker, E.; Peris, K.; Barrett, J. H.; Bishop, D. T.; Bishop, J. A. Newton
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Fine-Tiling Array CGH to Improve Diagnostics for α- and β-Thalassemia Rearrangements
err2011-10-31
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errPhylipsen, Marion; Chaibunruang, Attawut; Vogelaar, Ingrid P.; Balak, Jeetindra R. A.; Schaap, Rianne A. C.; Ariyurek, Yavuz; Fucharoen, Supan; den Dunnen, Johan T.; Giordano, Piero C.; Bakker, Egbert; Harteveld, Cornelis L.
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Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy
err2011-07-05
err53
PREAI
errvan Westrum, S. M. Schade; Hoogerwaard, E. M.; Dekker, L.; Standaar, T. S.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; van Essen, A. J.; Leschot, N. J.; Wilde, A. A. M.; de Haan, R. J.; de Visser, M.; van der Kooi, A. J.
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The Jumping SHOX Gene-Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis
err2011-02-01
err9
PREAI
errKant, Sarina G.; van der Kamp, Hetty J.; Kriek, Marjolein; Bakker, Egbert; Bakker, Boudewijn; Hoffer, Mariette J. V.; van Bunderen, Patrick; Losekoot, Monique; Maas, Saskia M.; Wit, Jan M.; Rappold, Gudrun; Breuning, Martijn H.
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Keratosis Follicularis Spinulosa Decalvans Is Caused by Mutations in MBTPS2
err2010-09-07
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errAten, Emmelien; Brasz, Lisa C.; Bornholdt, Dorothea; Hooijkaas, Ingeborg B.; Porteous, Mary E.; Sybert, Virginia P.; Vermeer, Maarten H.; Vossen, Rolf H. A. M.; van der Wielen, Michiel J. R.; Bakker, Egbert; Breuning, Martijn H.; Grzeschik, Karl-Heinz; Oosterwijk, Jan C.; den Dunnen, Johan T.
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