DSpace at RU >

Search Results

Results 1-12 of 12.

Item hits:

Full Text	Issue Date	Title	Author(s)
	2011	CR1 genotype is associated with entorhinal cortex volume in young healthy adults	Bralten, J.B.; Franke, B.; Arias Vasquez, A.; Heister, A.; Brunner, H.G.; Fernandez, G.S.E.; Rijpkema, M.J.P.
	2011	Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy	Smits, P.; Saada, A.; Wortmann, S.B.; Heister, A.; Brink, M.; Pfundt, R.P.; Miller, C.; Haas, D.; Hantschmann, R.; Rodenburg, R.J.T.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den
	2011	Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family	Morava, E.; Kuhnisch, J.; Drijvers, J.M.; Robben, J.H.; Cremers, C.W.R.J.; Setten, P. van; Branten, A.J.W.; Stumpp, S.; Jong, A. de; Voesenek, K.E.J.; Vermeer, S.; Heister, A.; Claahsen-van der Grinten, H.L.; O'Neill, C.W.; Willemsen, M.H.; Lefeber, D.J.; Deen, P.M.T.; Kornak, U.; Kremer, J.M.J.; Wevers, R.A.
	2010	Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD.	Franke, B.; Vasquez, A.A.; Johansson, S.; Hoogman, M.; Romanos, J.; Boreatti-Hummer, A.; Heine, M.; Jacob, C.P.; Lesch, K.P.; Casas, M.; Ribases, M.; Bosch, R.; Sanchez-Mora, C.; Gomez-Barros, N.; Fernandez-Castillo, N.; Bayes, M.; Halmoy, A.; Halleland, H.; Landaas, E.T.; Fasmer, O.B.; Knappskog, P.M.; Heister, J.G.A.M.; Kiemeney, L.A.L.M.; Kooij, J.J.; Boonstra, A.M.; Kan, C.C.; Asherson, P.; Faraone, S.V.; Buitelaar, J.K.; Haavik, J.; Cormand, B.; Ramos-Quiroga, J.A.; Reif, A.
	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.
	2009	Rare but relevant kidney disorders.	Grünveld, J.P; Scholl, U.; Choi, M.; Liu, T.; Ramaekers, V.; Häusler, M.; Grimmer, J.; Tobe, S.; Fahri, A.; Nelson-Williams, C.; Lifton, R.P.; Bockenhauer, D.; Feather, S.; Stanescu, H.; Bandulik, S.; Zdebik, A.; Reichold, M.; Tobin, J.; Lieberer, E.; Sterner, C.; Landoure, G.; Arora, R.; Sirimanna, T.; Thompson, D.; Cross, J.; Hof, W. van 't; Al Masri, O.; Tullus, K.; Yeung, S.; Anikster, Y.; Klootwijk, E.D.; Hubank, M.; Dillon, M.; Heitzmann, D.; Arcos-Burgos, M.; Knepper, M.A.; Dobbie, A.; Gahl, W.A.; Warth, R.; Sheridan, E.; Kleta, R.; Glaudemans, B.; Wijst, J.A.J. van der; Scola, R.H.; Lorenzoni, P.J.; Heister, J.G.A.M.; Kemp, J.W.C.M. van der; Knoers, N.V.A.M.; Hoenderop, J.G.J.; Bindels, R.J.M.; Bommel, E. van; Jansen, I.J.; Hendriksz, T.; Aarnoudse, A.; Scheel, P.; Feeley, N.; Delvaeye, M.; Noris, M.; Vriese, A. de; Esmon, C.; Esmon, N.; Ferrell, G.; Del-Favero, J.; Plaisance, S.; Claes, B.; Lambrechts, D.; Remuzzi, G.; Conway, E.
	2009	A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.	Glaudemans, B.; Wijst, J.A.J. van der; Scola, R.H.; Lorenzoni, P.J.; Heister, J.G.A.M.; Kemp, J.W.C.M. van der; Slobbe-Knoers, V.V.A.M.; Hoenderop, J.G.J.; Bindels, R.J.M.
	2008	Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.	Collin, R.W.J.; Kalay, E.; Tariq, M.; Peters, T.A.; Zwaag, B. van der; Venselaar, H.; Oostrik, J.; Lee, K.; Ahmed, Z.M.; Caylan, R.; Li, Y.; Spierenburg, H.A.; Eyupoglu, E.; Heister, A.; Riazuddin, Saima; Bahat, E.; Ansar, M.; Arslan, S.; Wollnik, B.; Brunner, H.G.; Cremers, C.W.R.J.; Karaguzel, A.; Ahmad, W.; Cremers, F.P.M.; Vriend, G.; Friedman, T.B.; Riazuddin, Sheikh; Leal, S.M.; Kremer, H.
	2008	An exploratory study of the relationship between four candidate genes and neurocognitive performance in adult ADHD	Boonstra, A.M.; Kooij, J.J.; Buitelaar, J.K.; Oosterlaan, J.; Sergeant, J.A.; Heister, J.G.A.M.; Franke, B.
	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.
	2007	A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.	Kalay, E.; Caylan, R.; Kiroglu, A.F.; Yasar, T.; Collin, R.W.J.; Heister, J.G.A.M.; Oostrik, J.; Cremers, C.W.R.J.; Brunner, H.G.; Karaguzel, A.; Kremer, H.
	2004	Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family.	Kovel, C.G.F. de; Hol, F.A.; Heister, J.G.A.M.; Willemen, J.J.H.T.; Sandkuijl, L.A.; Franke, B.; Padberg, G.W.A.M.

1