DSpace

DSpace at RU >

Search Results

 
for  

Results 1-20 of 20.

Sort items by In order  |  Results/Page Authors/record

Item hits:

Full TextIssue DateTitleAuthor(s)
2011The gastric sleeve: losing weight as fast as micronutrients?Aarts, E.O.; Janssen, I.M.; Berends, F.J.
2011De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeHoischen, A.; Bon, B.W. van; Rodriguez-Santiago, B.; Gilissen, C.F.H.A.; Vissers, L.E.L.M.; Vries, P.F. de; Janssen, I.M.; Lier, B. van; Hastings, R.; Smithson, S.F.; Newbury-Ecob, R.; Kjaergaard, S.; Goodship, J.; McGowan, R.; Bartholdi, D.; Rauch, A.; Peippo, M.; Cobben, J.M.; Wieczorek, D.; Gillessen-Kaesbach, G.; Veltman, J.A.; Brunner, H.G.; Vries, B.B. de
2011Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and miceVissers, L.E.L.M.; Cox, T.C.; Maga, A.M.; Short, K.M.; Wiradjaja, F.; Janssen, I.M.; Jehee, F.; Bertola, D.; Liu, J.; Yagnik, G.; Sekiguchi, K.; Kiyozumi, D.; Bokhoven, J.H.L.M. van; Marcelis, C.L.M.; Cunningham, M.L.; Anderson, P.J.; Boyadjiev, S.A.; Passos-Bueno, M.R.; Veltman, J.A.; Smyth, I.; Buckley, M.F.; Roscioli, T.
2011Hepatic steatosis in morbidly obese patients undergoing gastric bypass surgery: assessment with open-system 1H-MR spectroscopy.Werven, J.R. van; Schreuder, T.C.; Aarts, E.O.; Nederveen, A.J.; Meijer, J.W.; Berends, F.J.; Janssen, I.M.; Mulder, C.J.; Jansen, P.L.; Stoker, J.
2011Access-port fixation on the left pectoral fascia in laparoscopic adjustable gastric banding.Wageningen, B. van; Aarts, E.O.; Janssen, I.M.; Berends, F.J.
2010A de novo paradigm for mental retardation.Vissers, L.E.L.M.; Ligt, J. de; Gilissen, C.F.H.A.; Janssen, I.M.; Steehouwer, M.; Vries, P.F. de; Lier, B. van; Arts, P.J.W.; Wieskamp, N.A.W.; Rosario, M. del; Bon, B.W.M. van; Hoischen, A.; Vries, L.B.A. de; Brunner, H.G.; Veltman, J.A.
2009Constitutional DNA copy number changes in ICSI children.Woldringh, G.H.; Janssen, I.M.; Hehir-Kwa, J.Y.; Elzen, C. van den; Kremer, J.A.M.; Boer, P. de; Schoenmakers, E.F.P.M.
2009Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Vissers, L.E.L.M.; Bhatt, S.S.; Janssen, I.M.; Xia, Z.; Lalani, S.R.; Pfundt, R.P.; Derwinska, K.; Vries, L.B.A. de; Gilissen, C.F.H.A.; Hoischen, A.; Nesteruk, M.; Wisniowiecka-Kowalnik, B.; Smyk, M.; Brunner, H.G.; Cheung, S.W.; Geurts van Kessel, A.H.M.; Veltman, J.A.; Stankiewicz, P.
2008CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.Friedman, J.I.; Vrijenhoek, T.; Markx, S.; Janssen, I.M.; Vliet, W.A. van der; Faas, B.H.W.; Knoers, N.V.A.M.; Cahn, W.; Kahn, R.S.; Edelmann, L.; Davis, K.L.; Silverman, J.M.; Brunner, H.G.; Geurts van Kessel, A.H.M.; Wijmenga, C.; Ophoff, R.A.; Veltman, J.A.
2007Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.Hehir-Kwa, J.Y.; Egmont-Peterson, M.; Janssen, I.M.; Smeets, D.F.C.M.; Geurts van Kessel, A.H.M.; Veltman, J.A.
2007Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.Hollander, A.I. den; Lopez, I.; Yzer, S.; Zonneveld, M.N.; Janssen, I.M.; Strom, T.M.; Hehir-Kwa, J.Y.; Veltman, J.A.; Arends, M.L.; Meitinger, T.; Musarella, M.A.; Born, L.I. van den; Fishman, G.A.; Maumenee, I.H.; Rohrschneider, K.; Cremers, F.P.M.; Koenekoop, R.K.
2006In search of disease genes. Array CGH as a molecular cytogenetic diagnostic tool.Janssen, I.M.; Smeets, D.F.C.M.; Veltman, J.A.
2006Identification of tumor-specific molecular signatures in intracranial ependymoma and association with clinical characteristics.Modena, P.; Lualdi, E.; Facchinetti, F.; Veltman, J.; Reid, J.F.; Minardi, S.; Janssen, I.M.; Giangaspero, F.; Forni, M.; Finocchiaro, G.; Genitori, L.; Giordano, F.; Riccardi, R.; Schoenmakers, E.F.P.M.; Massimino, M.; Sozzi, G.
2005Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization.Veltman, I.M.; Veltman, J.; Janssen, I.M.; Hulsbergen- van de Kaa, C.A.; Oosterhuis, W.; Schneider, D.; Stoop, H.; Gillis, A.J.M.; Zahn, S.; Looijenga, L.H.J.; Gobel, U.; Geurts van Kessel, A.H.M.
2005Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.Schraders, M.; Pfundt, R.; Straatman, H.M.P.M.; Janssen, I.M.; Geurts van Kessel, A.H.M.; Schoenmakers, E.F.P.M.; Krieken, J.H.J.M. van; Groenen, P.J.T.A.
2005Diagnostic genome profiling in mental retardation.Vries, L.B.A. de; Pfundt, R.; Leisink, M.A.R.; Koolen, D.A.; Vissers, L.E.L.M.; Janssen, I.M.; Reijmersdal, S.V. van; Nillesen, W.M.; Huys, E.; Leeuw, N. de; Smeets, D.F.C.M.; Sistermans, E.A.; Feuth, A.B.; Ravenswaaij-Arts, C.M.A. van; Geurts van Kessel, A.H.M.; Schoenmakers, E.F.P.M.; Brunner, H.G.; Veltman, J.A.
2004Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.Kleefstra, T.; Yntema, H.G.; Oudakker, A.R.; Banning, M.J.G.; Kalscheuer, V.M.M.; Chelly, J.; Moraine, C.; Ropers, H.H.; Fryns, J.P.; Janssen, I.M.; Sistermans, E.A.; Nillesen, W.M.; Vries, L.B.A. de; Hamel, B.C.J.; Bokhoven, J.H.L.M. van
2004Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.Vissers, L.E.L.M.; Ravenswaaij-Arts, C.M.A. van; Admiraal, R.J.C.; Hurst, J.A.; Vries, L.B.A. de; Janssen, I.M.; Vliet, W.A. van der; Huys, E.; Jong, P.J. de; Hamel, B.C.J.; Schoenmakers, E.F.P.M.; Brunner, H.G.; Veltman, J.A.; Geurts van Kessel, A.H.M.
1997Isolation of osteosarcoma-associated amplified DNA sequences using representational difference analysisSimons, A.; Janssen, I.M.; Suijkerbuijk, R.F.; Veth, R.P.H.; Pruszczynski, M.; Hulsbergen-van de Kaa, C.A.; Manoir, S. du; Geurts van Kessel, A.H.M.
1996Molecular cloning of the papillary renal cell carcinoma-associated translocation (X;1)(p11;q21) breakpointWeterman, M.A.J.; Wilbrink, M.J.M.; Janssen, I.M.; Janssen, H.A.P.; Berg, E. van den; Fisher, S.; Craig, I.; Geurts van Kessel, A.H.M.

1

 

  DSpace Software Copyright © 2002-2011  Duraspace - Feedback