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| Full Text | Issue Date | Title | Author(s) |  | 2012 | Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 | Kamsteeg, E.J.; Kress, W.; Catalli, C.; Hertz, J.M.; Witsch-Baumgartner, M.; Buckley, M.F.; van Engelen, B.G.; Schwartz, M.; Scheffer, H. |
| | 2012 | Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence? | Sullivan, W.; Evans, D.G.; Newman, W.G.; Ramsden, S.C.; Scheffer, H.; Payne, K. |
| | 2012 | Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. | Koolen, D.A.; Kramer, J.M.; Neveling, K.; Nillesen, W.M.; Moore-Barton, H.L.; Elmslie, F.V.; Toutain, A.; Amiel, J.; Malan, V.; Tsai, A.C.; Cheung, S.W.; Gilissen, C.F.H.A.; Verwiel, E.T.P.; Martens, S.; Feuth, T.; Bongers, M.H.F.; Vries, P.F. de; Scheffer, H.; Vissers, L.E.L.M.; Brouwer, A.P.M. de; Brunner, H.G.; Veltman, J.A.; Schenck, A.; Yntema, H.G.; Vries, B.B. de |
| | 2012 | Molecular diagnosis of usher syndrome: application of two different next generation sequencing-based procedures | Licastro, D.; Mutarelli, M.; Peluso, I.; Neveling, K.; Wieskamp, N.; Rispoli, R.; Vozzi, D.; Athanasakis, E.; D'Eustacchio, A.; Pizzo, M.; D'Amico, F.; Ziviello, C.; Simonelli, F.; Fabretto, A.; Scheffer, H.; Gasparini, P.; Banfi, S.; Nigro, V. |
| | 2012 | Next-generation genetic testing for retinitis pigmentosa | Neveling, K.; Collin, R.W.J.; Gilissen, C.; van Huet, R.A.; Visser, L.; Kwint, M.P.; Gijsen, S.J.; Zonneveld, M.N.; Wieskamp, N.; de Ligt, J.; Siemiatkowska, A.M.; Hoefsloot, L.H.; Buckley, M.F.; Kellner, U.; Branham, K.E.; Hollander, A.I. den; Hoischen, A.; Hoyng, C.; Klevering, B.J.; van den Born, L.I.; Veltman, J.A.; Cremers, F.P.; Scheffer, H. |
| | 2012 | Validation study of existing gene expression signatures for anti-TNF treatment in patients with rheumatoid arthritis | Toonen, E.J.M.; Gilissen, C.F.; Franke, B.; Kievit, W.; Eijsbouts, A.M.; Broeder, A.A. den; Reijmersdal, S.V. van; Veltman, J.A.; Scheffer, H.; Radstake, T.R.; van Riel, P.L.; Barrera, P.; Coenen, M.J. |
| | 2012 | Diagnostic exome sequencing in persons with severe intellectual disability | de Ligt, J.; Willemsen, M.H.; van Bon, B.W.; Kleefstra, T.; Yntema, H.G.; Kroes, T.; Vulto-van Silfhout, A.T.; Koolen, D.A.; de Vries, P.; Gilissen, C.; del Rosario, M.; Hoischen, A.; Scheffer, H.; de Vries, B.B.; Brunner, H.G.; Veltman, J.A.; Peart-Vissers, L.E.L.M. |
| | 2012 | Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. | Estrada-Cuzcano, A.; Neveling, K.; Kohl, S.; Banin, E.; Rotenstreich, Y.; Sharon, D.; Falik-Zaccai, T.C.; Hipp, S.; Roepman, R.; Wissinger, B.; Letteboer, S.J.F.; Mans, D.A.; Blokland, E.A.W.; Kwint, M.P.; Gijsen, S.J.; Huet, R.A.C. van; Collin, R.W.J.; Scheffer, H.; Veltman, J.A.; Zrenner, E.; Hollander, A.I. den; Klevering, B.J.; Cremers, F.P.M. |
| | 2012 | Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort | van Gassen, K.L.; van der Heijden, C.D.; Bot, S.T. de; Den Dunnen, W.F.; van den Berg, L.H.; Verschuuren-Bemelmans, C.C.; Kremer, H.P.H.; Veldink, J.H.; Kamsteeg, E.J.; Scheffer, H.; Warrenburg, B.P.C. van de |
| | 2011 | Genome-wide association study confirms extant PD risk loci among the Dutch | Simon-Sanchez, J.; Hilten, J.J. van; Warrenburg, B.P.C. van de; Post, B.; Berendse, H.W.; Arepalli, S.; Hernandez, D.G.; Bie, R.M. de; Velseboer, D.; Scheffer, H.; Bloem, B.R.; Dijk, K.D. van; Rivadeneira, F.; Hofman, A.; Uitterlinden, A.G.; Rizzu, P.; Bochdanovits, Z.; Singleton, A.B.; Heutink, P. |
| | 2011 | Milder phenotypes of glucose transporter type 1 deficiency syndrome | Anand, G.; Padeniya, A.; Hanrahan, D.; Scheffer, H.; Zaiwalla, Z.; Cox, D.; Mann, N.; Hewertson, J.; Price, S.; Nemeth, A.; Arsov, T.; Scheffer, I.; Jayawant, S.; Pike, M.; McShane, T. |
 | 2011 | Autosomal recessive cerebellar ataxias: the current state of affairs | Vermeer, S.; Warrenburg, B.P.C. van de; Willemsen, M.A.A.P.; Cluitmans, M.; Scheffer, H.; Kremer, B.; Knoers, N.V.A.M. |
| | 2011 | Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies | Nalls, M.A.; Plagnol, V.; Hernandez, D.G.; Sharma, M.; Sheerin, U.M.; Saad, M.; Simon-Sanchez, J.; Schulte, C.; Lesage, S.; Sveinbjornsdottir, S.; Stefansson, K.; Martinez, M.; Hardy, J.; Heutink, P.; Brice, A.; Gasser, T.; Singleton, A.B.; Wood, N.W.; Bloem, B.R.; Post, B.; Scheffer, H.; Warrenburg, B.P.C. van de |
| | 2011 | The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen | Akker, P.C. van den; Mellerio, J.E.; Martinez, A.E.; Liu, L.; Meijer, R.; Dopping-Hepenstal, P.J.; Essen, A.J. van; Scheffer, H.; Hofstra, R.M.; McGrath, J.A.; Jonkman, M.F. |
| | 2011 | Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype | Coenen, M.J.H.; Tieleman, A.A.; Schijvenaars, M.M.V.A.P.; Leferink, M.; Ranum, L.P.; Scheffer, H.; Engelen, B.G. van |
| | 2011 | Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. | Es, M.A. van; Schelhaas, H.J.; Vught, P.W. van; Ticozzi, N.; Andersen, P.M.; Groen, E.J.; Schulte, C.; Blauw, H.M.; Koppers, M.; Diekstra, F.P.; Fumoto, K.; Leclerc, A.L.; Keagle, P.; Bloem, B.R.; Scheffer, H.; Nuenen, B.F.L. van; Blitterswijk, M. van; Rheenen, W. van; Wills, A.M.; Lowe, P.P.; Hu, G.F.; Yu, W.; Kishikawa, H.; Wu, D.; Folkerth, R.D.; Mariani, C.; Goldwurm, S.; Pezzoli, G.; Damme, P. van; Lemmens, R.; Dahlberg, C.; Birve, A.; Fernandez-Santiago, R.; Waibel, S.; Klein, C.; Weber, M.; Kooi, A.J. van der; Visser, M.C.H. de; Verbaan, D.; Hilten, J.J. van; Heutink, P.; Hennekam, E.A.; Cuppen, E.; Berg, D. Van den; Brown, R.H. Jr.; Silani, V.; Gasser, T.; Ludolph, A.C.; Robberecht, W.; Ophoff, R.A.; Veldink, J.H.; Pasterkamp, R.J.; Bakker, P.I. de; Landers, J.E.; Warrenburg, B.P.C. van de; Berg, L.H. van den |
| | 2011 | A two-stage meta-analysis identifies several new loci for Parkinson's disease. | Plagnol, V.; Nalls, M.A.; Bras, J.M.; Hernandez, D.; Sharma, M.; Sheerin, U.M.; Saad, M.; Simon-Sanchez, J.; Schulte, C.; Lesage, S.; Sveinbjornsdottir, S.; Amouyel, P.; Arepalli, S.; Band, G.; Barker, R.A.; Bellinguez, C.; Ben-Shlomo, Y.; Berendse, H.W.; Berg, D.; Bhatia, K.P.; Bie, R.M. de; Biffi, A.; Bloem, B.R.; Bochdanovits, Z.; Bonin, M.; Brockmann, K.; Brooks, J.; Burn, D.J.; Charlesworth, G.; Chen, H.; Chinnery, P.F.; Chong, S.; Clarke, C.E.; Cookson, M.R.; Cooper, J.M.; Corvol, J.C.; Counsell, J.; Damier, P.; Dartigues, J.F.; Deloukas, P.; Deuschl, G.; Dexter, D.T.; Dijk, K.D. van; Dillman, A.; Durif, F.; Durr, A.; Edkins, S.; Evans, J.R.; Foltynie, T.; Freeman, C.; Gao, J.; Gardner, M.; Gibbs, J.R.; Goate, A.; Gray, E.; Guerreiro, R.; Gustafsson, O.; Harris, C.; Hellenthal, G.; Hilten, J.J. van; Hofman, A.; Hollenbeck, A.; Holton, J.L.; Hu, M.; Huang, X.; Huber, H.; Hudson, G.; Hunt, S.E.; Huttenlocher, J.; Illig, T.; Jonsson, P.V.; Langford, C.; Lees, A.J.; Lichtner, P.; Limousin, P.; Lopez, G.; McNeill, A.; Moorby, C.; Moore, M.; Morris, H.A.; Morrison, K.E.; Mudanohwo, E.; O'Sullivan, S.S; Pearson, J.; Pearson, R.; Perlmutter, J.; Petursson, H.; Pirinen, M.; Polnak, P.; Post, B.; Potter, S.C.; Ravina, B.; Revesz, T.; Riess, O.; Rivadeneira, F.; Rizzu, P.; Ryten, M.; Sawcer, S.J.; Schapira, A.; Scheffer, H.; Shaw, K.; Shoulson, I.; Sidransky, E.; Silva, R. de; Smith, C.; Spencer, C.C.; Stefansson, H.; Steinberg, S.; Stockton, J.D.; Strange, A.; Su, Z.; Talbot, K.; Tanner, C.M.; Tashakkori-Ghanbaria, A.; Tison, F.; Trabzuni, D.; Traynor, B.J.; Uitterlinden, A.G.; Vandrovcova, J.; Velseboer, D.; Vidailhet, M.; Vukcevic, D.; Walker, R.; Warrenburg, B.P.C. van de; Weale, M.E.; Wickremaratchi, M.; Williams, N.; Williams-Gray, C.H.; Winder-Rhodes, S.; Stefansson, K.; Martinez, M.; Donnelly, P.; Singleton, A.B.; Hardy, J.; Heutink, P.; Brice, A.; Gasser, T.; Wood, N.W. |
| | 2010 | The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. | Ergin, H.; Semerci, C.N.; Karakus, Y.T.; Scheffer, H.; Ergin, S.; Koltuksuz, U.; Meijer, R.; Satirog lu-Tufan, N.L. |
| | 2010 | A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. | Reeuwijk, J. van; Olderode-Berends, M.J.; Elzen, C. van den; Brouwer, O.F.; Roscioli, T.; Pampus, M.G. van; Scheffer, H.; Brunner, H.G.; Bokhoven, J.H.L.M. van; Hol, F.A. |
 | 2010 | Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. | Bot, S.T. de; Elzen, R.T. van den; Mensenkamp, A.R.; Schelhaas, H.J.; Willemsen, M.A.A.P.; Knoers, N.V.A.M.; Kremer, H.P.H.; Warrenburg, B.P.C. van de; Scheffer, H. |
| | 2010 | Genetic variants in toll-like receptors are not associated with rheumatoid arthritis susceptibility or anti-tumour necrosis factor treatment outcome | Coenen, M.J.H.; Enevold, C.; Barrera, P.; Schijvenaars, M.M.V.A.P.; Toonen, E.J.M.; Scheffer, H.; Padyukov, L.; Kastbom, A.; Klareskog, L.; Barton, A.; Kievit, W.; Rood, M.J.; Jansen, T.L.Th.A.; Swinkels, D.W.; Riel, P.L.C.M. van; Franke, B.; Bendtzen, K.; Radstake, T.R.D.J. |
| | 2010 | Massively parallel sequencing of ataxia genes after array-based enrichment. | Hoischen, A.; Gilissen, C.F.H.A.; Arts, P.J.W.; Wieskamp, N.A.W.; Vliet, W. van der; Vermeer, S.; Steehouwer, M.; Vries, P.F. de; Meijer, R.; Seiqueros, J.; Knoers, N.V.A.M.; Buckley, M.F.; Scheffer, H.; Veltman, J.A. |
| | 2010 | Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. | Nikopoulos, K.; Gilissen, C.F.H.A.; Hoischen, A.; Nouhuys, C.E. van; Boonstra, F.N.; Blokland, E.A.W.; Arts, P.J.W.; Wieskamp, N.A.W.; Strom, T.M.; Ayuso, C.; Tilanus, M.A.D.; Bouwhuis, S.; Mukhopadhyay, A.; Scheffer, H.; Hoefsloot, L.H.; Veltman, J.A.; Cremers, F.P.M.; Collin, R.W.J. |
| | 2010 | Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning. | Mattocks, C.J.; Watkins, G.; Ward, D.; Janssens, T.; Bosgoed, E.A.J.; Donk, K. van der; Ligtenberg, M.J.L.; Pot, B.; Theelen, J.P.G.; Cross, N.C.; Scheffer, H.; Matthijs, G. |
| | 2010 | Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. | Vermeer, S.; Hoischen, A.; Meijer, R.P.; Gilissen, C.F.H.A.; Neveling, K.; Wieskamp, N.A.W.; Brouwer, A.; Koenig, M.; Anheim, M.; Assoum, M.; Drouot, N.; Todorovic, S.; Milic-Rasic, V.; Lochmuller, H.; Stevanin, G.; Goizet, C.; David, A.; Durr, A.; Brice, A.; Kremer, B.; Warrenburg, B.P.C. van de; Schijvenaars, M.M.V.A.P.; Heister, A.; Kwint, M.P.; Arts, P.J.W.; Wijst, J.A.J. van der; Veltman, J.; Kamsteeg, E.J.; Scheffer, H.; Knoers, N.V.A.M. |
| | 2010 | Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. | Leen, W.G.; Klepper, J.; Verbeek, M.M.; Leferink, M.; Hofste, T.; Engelen, B.G.M. van; Wevers, R.A.; Arthur, T.; Bahi-Buisson, N.; Ballhausen, D.; Bekhof, J.; Bogaert, P. van; Carrilho, I.; Chabrol, B.; Champion, M.P.; Coldwell, J.; Clayton, P.; Donner, E.; Evangeliou, A.; Ebinger, F.; Farrell, K.; Forsyth, R.J.; Goede, C.G. de; Gross, S.; Grunewald, S.; Holthausen, H.; Jayawant, S.; Lachlan, K.; Laugel, V.; Leppig, K.; Lim, M.J.; Mancini, G.; Marina, A.D.; Martorell, L.; McMenamin, J.; Meuwissen, M.E.; Mundy, H.; Nilsson, N.O.; Panzer, A.; Poll-The, B.T.; Rauscher, C.; Rouselle, C.M.; Sandvig, I.; Scheffner, T.; Sheridan, E.; Simpson, N.; Sykora, P.; Tomlinson, R.; Trounce, J.; Webb, D.; Weschke, B.; Scheffer, H.; Willemsen, M.A.A.P. |
| | 2009 | Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes. | Brugman, F.; Scheffer, H.; Schelhaas, H.J.; Nillesen, W.M.; Wokke, J.H.J.; Warrenburg, B.P.C. van de; Berg, L.H. van den |
| | 2009 | Hereditaire spastische paraparesen : stand van zaken en leidraad voor genetisch onderzoek | Bot, S.T. de; Scheffer, H.; Schelhaas, H.J.; Knoers, N.V.A.M.; Willemsen, M.A.A.P.; Warrenburg, B.P.C. van de; Kremer, H.P.H. |
| | 2009 | ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia (vol 9, pg 207, 2008) | Vermeer, S.; Meijer, R.P.; Pijl, B.J.; Timmermans, J.; Cruysberg, J.R.M.; Bos, M.M.; Schelhaas, H.J.; Warrenburg, B.P.C. van de; Knoers, N.V.A.M.; Scheffer, H.; Kremer, H.P.H. |
| | 2009 | Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene. | Vermeer, S.; Meijer, R.P.; Hofste, T.G.; Bodmer, D.; Bosgoed, E.A.J.; Cremers, F.P.M.; Kremer, H.P.H.; Slobbe-Knoers, V.V.A.M.; Scheffer, H. |
| | 2009 | Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison. | Akker, P.C. van den; Hettema, W.; Meijer, R.; Jonkman, M.F.; Hofstra, R.M.; Scheffer, H. |
| | 2009 | Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC). | Rinne, T.K.; Bolat, E.; Meijer, R.; Scheffer, H.; Bokhoven, J.H.L.M. van |
| | 2009 | HTR2C gene polymorphisms and the metabolic syndrome in patients with schizophrenia: a replication study. | Mulder, H.; Cohen, D.; Scheffer, H.; Gispen-de Wied, C.C.; Arends, J.; Wilmink, F.W.; Franke, B.; Egberts, A.C.G. |
| | 2009 | Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. | Akker, P.C. van den; Essen, A.J. van; Kraak, M.M.; Meijer, R.; Nijenhuis, M.; Meijer, G.; Hofstra, R.M.; Pas, H.H.; Scheffer, H.; Jonkman, M.F. |
| | 2009 | Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis. | Piepers, S.; Veldink, J.H.; Jong, S.W. de; Tweel, I. van de; Pol, W.L. van der; Uijtendaal, E.V.; Schelhaas, H.J.; Scheffer, H.; Visser, M. de; Jong, J.M. de; Wokke, J.H.J.; Groeneveld, G.J.; Berg, L.H. van den |
| | 2009 | Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. | Boonstra, F.N.; Nouhuys, C.E. van; Schuil, J.; Wijs, I.J. de; Donk, K.P. van der; Nikopoulos, K.; Mukhopadhyay, A.; Scheffer, H.; Tilanus, M.A.D.; Cremers, F.P.M.; Hoefsloot, L.H. |
| | 2009 | An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). | Franke, B.; Vermeulen, S.; Steegers-Theunissen, R.P.M.; Coenen, M.J.H.; Schijvenaars, M.M.V.A.P.; Scheffer, H.; Heijer, M. den; Blom, H.J. |
| | 2008 | GLUT1 deficiëntie syndroom. | Leen, W.G.; Verbeek, M.M.; Scheffer, H.; Engelen, B.G.M. van; Willemsen, M.A.A.P. |
| | 2008 | Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. | Contopoulos-Ioannidis, D.; Evangeliou, A.; Laak, H. ter; Vries, B. de; Pfundt, R.P.; Scheffer, H.; Smeitink, J.A.M.; Tzoufi, M.; Makis, A.; Marinos, E.; Hess, R.; Adams, D.; Huizing, M.; Morava, E. |
| | 2008 | Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. | Brugman, F.; Scheffer, H.; Wokke, J.H.; Nillesen, W.M.; Visser, M. de; Aronica, E.; Veldink, J.H.; Berg, LH van den |
| | 2008 | Gene expression profiling in rheumatoid arthritis: current concepts and future directions. | Toonen, E.J.; Barrera, P.; Radstake, T.R.D.J.; Riel, P.L.C.M. van; Scheffer, H.; Franke, B.; Coenen, M.J. |
| | 2008 | MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course. | Zafeiriou, D.I.; Rodenburg, R.J.; Scheffer, H.; Heuvel, L.P.v.d.; Pouwels, P.J.; Ververi, A.; Athanasiadou-Piperopoulou, F.; Knaap, M.S. van der |
| | 2008 | The tumour necrosis factor receptor superfamily member 1b 676T>G polymorphism in relation to response to infliximab and adalimumab treatment and disease severity in rheumatoid arthritis. | Toonen, E.J.; Coenen, M.J.; Kievit, W.; Fransen, J.; Eijsbouts, A.M.M.; Scheffer, H.; Radstake, T.R.D.J.; Creemers, M.C.W.; Rooij, DJ de; Riel, P.L.C.M. van; Franke, B.; Barrera, P. |
| | 2008 | Association of the dopamine transporter (SLC6A3/DAT1) gene 9-6 haplotype with adult ADHD | Franke, B.; Hoogman, M.; Vasquez, A Arias; Heister, J.G.A.M.; Savelkoul, P.J.M.; Naber, M.; Scheffer, H.; Kiemeney, L.A.L.M.; Kan, C.C.; Kooij, J.J.; Buitelaar, J.K. |
| | 2008 | Genotype-phenotype correlations in MYCN-related Feingold syndrome. | Marcelis, C.L.; Hol, F.A.; Graham, G.E.; Rieu, P.N.M.A.; Kellermayer, R.; Meijer, R.P.; Lugtenberg, D.; Scheffer, H.; Bokhoven, J.H.L.M. van; Brunner, H.G.; Brouwer, A.P.M. de |
| | 2008 | A natural history study of late onset spinal muscular atrophy types 3b and 4. | Piepers, S.; Berg, L.H. van den; Brugman, F.; Scheffer, H.; Ruiterkamp-Versteeg, M.; Engelen, B.G.M. van; Faber, C.G.; Visser, M. de; Pol, W.L. van der; Wokke, J.H. |
| | 2008 | ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. | Vermeer, S.; Meijer, R.P.; Pijl, B.J.; Timmermans, J.; Cruysberg, J.R.M.; Bos, M.M.; Schelhaas, H.J.; Warrenburg, B.P.C. van de; Knoers, N.V.A.M.; Scheffer, H.; Kremer, H.P.H. |
| | 2008 | A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. | Rinne, T.K.; Clements, S.E.; Lamme, E.; Duijf, P.H.; Bolat, E.; Meijer, R.; Scheffer, H.; Rosser, E.; Tan, T.Y.; McGrath, J.A.; Schalkwijk, J.; Brunner, H.G.; Zhou, H.; Bokhoven, H. van |
| | 2008 | Allelic imbalance analysis using a single-nucleotide polymorphism microarray for the detection of bladder cancer recurrence. | Coenen, M.J.H.; Ploeg, M.; Schijvenaars, M.M.V.A.P.; Cornel, E.B.; Karthaus, H.F.M.; Scheffer, H.; Witjes, J.A.M.; Franke, B.; Kiemeney, L.A.L.M. |
| | 2007 | GLUT1 deficiency with delayed myelination responding to ketogenic diet. | Klepper, J.; Engelbrecht, V.; Scheffer, H.; Knaap, M.S. van der; Fiedler, A. |
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