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Results 31-40 of 74 (Search time: 0.006 seconds).
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PreviewIssue DateTitleAuthor(s)
2007Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortiumde Brouwer, A.; Yntema, H.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.; de Vries, B.; van Bokhoven, H.; Van Esch, H.; Frints, S.; Froyen, G.; Fryns, J.; Raynaud, M.; Moizard, M.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; et al.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2011Chlamydia antibody testing and diagnosing tubal pathology in subfertile women: an individual patient data meta-analysisBroeze, K.; Opmeer, B.; Coppus, S.; Van Geloven, N.; Alves, M.; Anestad, G.; Bhattacharya, S.; Allan, J.; Guerra-Infante, M.; Den Hartog, J.; Land, J.; Idahl, A.; van der Linden, P.; Mouton, J.; Ng, E.; van der Steeg, J.; Steures, P.; Svenstrup, H.; Tiitinen, A.; Toye, B.; et al.
2010An economic analysis of induction of labour and expectant monitoring in women with gestational hypertension or pre-eclampsia at term (HYPITAT trial)Vijgen, S.; Koopmans, C.; Opmeer, B.; Groen, H.; Bijlenga, D.; Aarnoudse, J.; Bekedam, D.; van den Berg, P.; de Boer, K.; Burggraaff, J.; Bloemenkamp, K.; Drogtrop, A.; Franx, A.; de Groot, C.; Huisjes, A.; Kwee, A.; van Loon, A.; Lub, A.; Papatsonis, D.; van der Post, J.; et al.
2010Effectiveness of an e-learning course in evidence-based medicine for foundation (internship) trainingHadley, J.; Kulier, R.; Zamora, J.; Coppus, S.; Weinbrenner, S.; Meyerrose, B.; Decsi, T.; Horvath, A.; Nagy, E.; Emparanza, J.; Arvanitis, T.; Burls, A.; Cabello, J.; Kaczor, M.; Zanrei, G.; Pierer, K.; Kunz, R.; Wilkie, V.; Wall, D.; Mol, B.; et al.
2013Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndromeAoki, Y.; Niihori, T.; Banjo, T.; Okamoto, N.; Mizuno, S.; Kurosawa, K.; Ogata, T.; Takada, F.; Yano, M.; Ando, T.; Hoshika, T.; Barnett, C.; Ohashi, H.; Kawame, H.; Hasegawa, T.; Okutani, T.; Nagashima, T.; Hasegawa, S.; Funayama, R.; Nagashima, T.; et al.
2009Induction of labour versus expectant monitoring for gestational hypertension or mild pre-eclampsia after 36 weeks' gestation (HYPITAT): a multicentre, open-label randomised controlled trialKoopmans, C.; Bijlenga, D.; Groen, H.; Vijgen, S.; Aarnoudse, J.; Bekedam, D.; van den Berg, P.; de Boer, K.; Burggraaff, J.; Bloemenkamp, K.; Drogtrop, A.; Franx, A.; de Groot, C.; Huisjes, A.; Kwee, A.; van Loon, A.; Lub, A.; Papatsonis, D.; van der Post, J.; Roumen, F.; et al.
2015Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderKumar, R.; Corbett, M.; Smith, N.; Jolly, L.; Tan, C.; Keating, D.; Duffield, M.; Utsumi, T.; Moriya, K.; Smith, K.; Hoischen, A.; Abbott, K.; Harbord, M.; Compton, A.; Woenig, J.; Arts, P.; Kwint, M.; Wieskamp, N.; Gijsen, S.; Veltman, J.; et al.
2010Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, P.; Yu, Z.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Swiedler, S.; Hardy, K.; Berger, K.; et al.

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