|
|
DSpace at RU >
Browsing by Author Merkx, G.F.M.
Showing results 1 to 26 of 26
| Full Text | Issue Date | Title | Author(s) | | 2010 | Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression. | Bruijn, D.R.H. de; Dijk, A.H.A. van; Pfundt, R.P.; Hoischen, A.; Merkx, G.F.M., et al |
| 2010 | CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. | Mukhopadhyay, A.; Kramer, J.M.; Merkx, G.F.M.; Lugtenberg, D.; Smeets, D.F.C.M., et al |
| 2010 | Deficiency of either P-glycoprotein or breast cancer resistance protein protect against acute kidney injury. | Huls, M.; Schoeber, J.P.H.; Verfaillie, C.M.; Luttun, A.; Ulloa-Montoya, F., et al |
| 2009 | Characterization of a recurrent t(1;2)(p36;p24) in human uterine leiomyoma. | Rijk, A. van; Sweers, M.A.; Huys, E.; Kersten, M.; Merkx, G.F.M., et al |
| 2007 | UroVysion compared with cytology and quantitative cytology in the surveillance of non-muscle-invasive bladder cancer. | Moonen, P.M.J.; Merkx, G.F.M.; Peelen, P.; Karthaus, H.F.M.; Smeets, D.F.C.M., et al |
| 2006 | Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14. | Faas, B.H.W.; Deure, J. van der; Wunderink, M.I.; Merkx, G.F.M.; Brunner, H.G. |
| 2004 | Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). | Koolen, D.A.; Nillesen, W.M.; Versteeg, M.H.; Merkx, G.F.M.; Knoers, N.V.A.M., et al |
| 2001 | Genomic organization, chromosomal localization, and 5' upstream region of the human DC-STAMP gene | Hartgers, F.C.; Looman, M.W.G.; Woning, B. van der; Merkx, G.F.M.; Figdor, C.G., et al |
| 2000 | Molecular cloning and immunogenicity of renal cell carcinoma-associated antigen G250 | Grabmaier, K.; Vissers, J.L.M.; Weijert, M.C.A. de; Oosterwijk-Wakka, J.C.; Bokhoven, A. van, et al |
| 2000 | Gene structure and chromosomal mapping of human epithelial calcium channel. | Müller, D.G.; Hoenderop, J.G.J.; Merkx, G.F.M.; Os, C.H. van; Bindels, R.J.M. |
| 1997 | A family of human ß4-galactosyltransferases : cloning and expression of two novel UDP-galactose : ß-N-acetylglucosamine ß1,4-galactosyltransferases, ß4Gal-T2 and ß4Gal-T3 | Almeida, R.; Amado, M.; David, L.; Levery, S.B.; Holmes, E.H., et al |
| 1997 | Assignment of the human adipocyte fatty acid-binding protein gene (FABP4) to chromosome 8q21 using somatic cell hybrid and fluorescence in Situ hybridization techniques | Prinsen, C.F.M.; Bruijn, D.R.H. de; Merkx, G.F.M.; Veerkamp, J.H. |
| 1997 | Fine mapping of the human renal oncocytoma-associated translocation (5;11)(q35;q13) breakpoint | Sinke, R.J.; Dijkhuizen, T.; Janssen, H.A.P.; Olde Weghuis, D.E.M.; Merkx, G.F.M., et al |
| 1997 | Assignment of the canalicular multispecific organic anion transporter (Cmoat) gene to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization | Kuijck, M.A. van; Kool, M.; Merkx, G.F.M.; Geurts van Kessel, A.H.M.; Bindels, R.J.M., et al |
| 1997 | Assignment of the human adipocyte fatty acid-binding protein gene (FABP4) to chromosome 8q21 using somatic cell hybrid and fluorescence in situ hybridization techniques | Prinsen, C.F.M.; Bruijn, D.R.H. de; Merkx, G.F.M.; Veerkamp, J.H. |
| 1997 | Assignment of the canalicular multiorganic anion transporter (cMOAT) gene to human chromosome 10q24 and mouse chromosome 19D2 | Kuijck, M.A. van; Merkx, G.F.M.; Kool, M.; Kessel, A.G. van; Bindels, R.J.M., et al |
| 1997 | Assignment of the canalicular multispecific organic anion transporter gene (CMOAT) to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization | Kuijck, M.A. van; Kool, M.; Merkx, G.F.M.; Kessel, A.G. van; Bindels, R.J.M., et al |
| 1997 | Assignment of the human adipocyte fatty acid-binding protein gene (FABP4) to chromosome 8q21 using somatic cell hybrid and fluorescence in situ hybridization techniques | Prinsen, C.F.M.; Bruijn, D.R.H. de; Merkx, G.F.M.; Veerkamp, J.H. |
| 1996 | Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene and identification of mutations in Dutch families | Lemmink, H.H.; Heuvel, L.P.W.J. van den; Dijk, H.A. van; Merkx, G.F.M.; Smilde, T.J., et al |
| 1996 | The gene encoding the Fas-associated Protein Tyrosine Phosphatase PTBL/PTP-BAS is located in mouse chromosomal region 5E/F and human chromosomal region 4q21. | Maagdenberg, A.M.J.M. van den; Olde Weghuis, D.E.M.; Rijss, J.P.L.; Merkx, G.F.M.; Wieringa, B., et al |
| 1996 | The human AQP4 gene : definition of the locus encoding two water channel polypeptides in brain | Lu, M.; Lee, M.D.; Smith, B.L.; Jung, J.S.; Agre, P., et al |
| 1996 | The human AQP4 gene: definition of the locus encoding two water channel polypeptides in brain. | Lu, M.; Lee, M.D.; Smith, B.L.; Jung, J.S.; Agre, P., et al |
| 1996 | cDNA cloning and chromosomal localization of the genes encoding the alfa- and beta-subunits of human rab geranylgeranyl transferase: the 3' end of the alfa-subunit gene overlaps with the transglutaminase 1 gene promoter | Bokhoven, J.H.L.M. van; Rawson, R.B.; Merkx, G.F.M.; Cremers, F.P.M.; Seabra, M.C. |
| 1996 | The gene (PTPN13) encoding the protein tyrosine phosphatase PTP-BL/PTP-BAS is located in mouse chromosome region 5E/F and human chromosome region 4q21 | Maagdenberg, A.M.J.M. van den; Olde Weghuis, D.E.M.; Rijss, J.P.L.; Merkx, G.F.M.; Wieringa, B., et al |
| 1996 | Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families | Lemmink, H.H.; Heuvel, L.P.W.J. van den; Dijk, H.A. van; Merkx, G.F.M.; Smilde, T.J., et al |
| 1995 | A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene | Kok, Y.J.M. de; Merkx, G.F.M.; Maarel, S.M. van der; Huber, I.; Malcolm, S., et al |
Showing results 1 to 26 of 26
|