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Results 1-10 of 33 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2014Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumorLim, M.; Ooi, B.; Jungebluth, P.; Sjöqvist, S.; Hultman, I.; Lemon, G.; Gustafsson, Y.; Asmundsson, J.; Baiguera, S.; Douagi, I.; Gilevich, I.; Popova, A.; Haag, J.; Rodríguez, A.; Lim, J.; Liedén, A.; Nordenskjöld, M.; Alici, E.; Baker, D.; Unger, C.; et al.; Burns, J.
2017Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingJansen, I.E.; Ye, H.; Heetveld, S.; Lechler, M.C.; Michels, H.; Seinstra, R.I.; Lubbe, S.J.; Drouet, V.; Lesage, S.; Majounie, E.; Gibbs, J.R.; Nalls, M.A.; Ryten, M.; Botia, J.A.; Vandrovcova, J.; Simon-Sanchez, J.; Castillo-Lizardo, M.; Rizzu, P.; Blauwendraat, C.; Chouhan, A.K.; et al.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
2011Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and developmentSovio, U.; Mook-Kanamori, D.; Warrington, N.; Lawrence, R.; Briollais, L.; Palmer, C.; Cecil, J.; Sandling, J.; Syvanen, A.; Kaakinen, M.; Beilin, L.; Millwood, I.; Bennett, A.; Laitneen, J.; Pouta, A.; Molitor, J.; Smith, G.; Ben-Shlomo, Y.; Jaddoe, V.; Palmer, L.; et al.; Gibson, G.
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; et al.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
2013Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposityCousminer, D.; Berry, D.; Timpson, N.; Ang, W.; Thiering, E.; Byrne, E.; Taal, H.; Huikari, V.; Bradfield, J.; Kerkhof, M.; Groen-Blokhuis, M.; Kreiner-Møller, E.; Marinelli, M.; Holst, C.; Leinonen, J.; Perry, J.; Surakka, I.; Kettunen, J.; Anttila, V.; Kaakinen, M.; et al.
2013Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyBraunlin, E.; Rosenfeld, H.; Kampmann, C.; Johnson, J.; Beck, M.; Giugliani, R.; Guffon, N.; Ketteridge, D.; Miranda, C.; Scarpa, M.; Schwartz, I.; Teles, E.; Wraith, J.; Barrios, P.; Dias da Silva, E.; Kurio, G.; Richardson, M.; Gildengorin, G.; Hopwood, J.; Imperiale, M.; et al.

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