OpenURL Connection Search

Select item for more details and to access through your institution.

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-51
By:
- Brands, Marion M.;
- Hoogeveen-Westerveld, Marianne;
- Kroos, Marian A.;
- Nobel, Willemieke;
- Ruijter, George J.;
- Özkan, Lale;
- Plug, Iris;
- Grinberg, Daniel;
- Vilageliu, Lluïsa;
- Halley, Dicky J.;
- van der Ploeg, Ans T.;
- Reuser, Arnold J.
Publication type:
Article
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Published in:
2013
By:
- Brands, Marion M;
- Hoogeveen-Westerveld, Marianne;
- Kroos, Marian A;
- Nobel, Willemieke;
- Ruijter, George J;
- Ozkan, Lale;
- Plug, Iris;
- Grinberg, Daniel;
- Vilageliu, Lluïsa;
- Halley, Dicky J;
- Ploeg, Ans T van der;
- Reuser, Arnold J;
- Özkan, Lale;
- van der Ploeg, Ans T
Publication type:
journal article
Univerricht-Lundborg Disease: Underdiagnosed in the Netherlands.
Published in:
Epilepsia (Series 4), 2004, v. 45, n. 9, p. 1061, doi. 10.1111/j.0013-9580.2004.43703.x
By:
- de Haan, Gerrit-Jan;
- Halley, Dicky J. J.;
- Doelman, Jan C.;
- Geesink, Huibert H.;
- Augustijn, Paul B.;
- Jager-Jongkind, Anke D.;
- Majoie, Marianne;
- Bader, Adri J.;
- Doeschate, Lian A. W. M. Leliefeld-ten;
- Deelen, Wout H.;
- Bertram, Ed;
- Lehesjoki, Anna E.;
- Lindhout, Dick
Publication type:
Article
Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1472, doi. 10.1002/ajmg.a.35365
By:
- Oegema, Renske;
- Maat-Kievit, Anneke;
- Lequin, Maarten H.;
- Schot, Rachel;
- Nanninga- van den Neste, Veerle M.H.;
- Doornbos, Marianne E.;
- de Wit, Marie C.Y.;
- Halley, Dicky J.;
- Mancini, Grazia M.S.
Publication type:
Article
Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases.
Published in:
Prenatal Diagnosis, 1999, v. 19, n. 3, p. 234, doi. 10.1002/(SICI)1097-0223(199903)19:3<234::AID-PD516>3.0.CO;2-7
By:
- van den Berg, Cardi;
- Braat, Armando P. G.;
- Van Opstal, Diane;
- Halley, Dicky J. J.;
- Kleijer, Wim J.;
- den Hollander, Nicolette S.;
- Brandenburg, Helen;
- Pijpers, Leen;
- Los, Frans J.
Publication type:
Article
Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 7, p. 659, doi. 10.1002/(SICI)1097-0223(199807)18:7<659::AID-PD317>3.0.CO;2-K
By:
- Los, Frans J.;
- Van Opstal, Diane;
- Van Den Berg, Cardi;
- Braat, Armando P. G.;
- Verhoef, Senno;
- Wesby-Van Swaay, Eveline;
- Van Den Ouweland, Ans M. W.;
- Halley, Dicky J. J.
Publication type:
Article
Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy.
Published in:
Prenatal Diagnosis, 1998, v. 18, n. 1, p. 35, doi. 10.1002/(SICI)1097-0223(199801)18:1<35::AID-PD214>3.0.CO;2-L
By:
- Van Opstal, Diane;
- van den Berg, Cardi;
- Deelen, Wout H.;
- Brandenburg, Helen;
- Cohen-Overbeek, Titia E.;
- Halley, Dicky J. J.;
- van den Ouweland, Ans M. W.;
- In 't Veld, Peter A.;
- Los, Frans J.
Publication type:
Article
Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies.
Published in:
Prenatal Diagnosis, 1997, v. 17, n. 10, p. 933, doi. 10.1002/(SICI)1097-0223(199710)17:10<933::AID-PD179>3.0.CO;2-0
By:
- Van Den Berg, Cardi;
- Ramlakhan, Sarvan K.;
- Van Opstal, Diane;
- Brandenburg, Helen;
- Halley, Dicky J. J.;
- Los, Frans J.
Publication type:
Article
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.
Published in:
2011
By:
- DE WIT, MARIE-CLAIRE Y.;
- DE RIJK-VAN ANDEL, JOJANNEKE;
- HALLEY, DICKY J.;
- PODDIGHE, PINO J.;
- ARTS, WILLEM FRANS M.;
- DE COO, IRENAEUS F. M.;
- MANCINI, GRAZIA M. S.
Publication type:
journal article
17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations.
Published in:
Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 12, p. 4713, doi. 10.1210/jc.84.12.4713
By:
- BOEHMER, ANNEMIE L. M.;
- BRINKMANN, ALBERT O.;
- SANDKUIJL, LODEWIJK A.;
- HALLEY, DICKY J. J.;
- NIERMEIJER, MARTINUS F.;
- ANDERSSON, STEFAN;
- DE JONG, FRANK H.;
- KAYSERILI, HÜLYA;
- DE VROEDE, MONIQUE A.;
- OTTEN, BARTO J.;
- ROUWÉ, CATRIENUS W.;
- MENDONÇA, BERENICE B.;
- RODRIGUES, CIDADE;
- BODE, HANS H.;
- DE RUITER, PETRA E.;
- DELEMARRE-VAN DE WAAL, HENRIETTE A.;
- DROP, STENVERT L. S.
Publication type:
Article
TheCLCAgene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis.
Published in:
Human Genetics, 2004, v. 115, n. 6, p. 483, doi. 10.1007/s00439-004-1190-y
By:
- Ritzka, Margit;
- Stanke, Frauke;
- Jansen, Silke;
- Gruber, Achim D.;
- Pusch, Larissa;
- Woelfl, Stefan;
- Veeze, Henk J.;
- Halley, Dicky J.;
- Tümmler, Burkhard
Publication type:
Article
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1142, doi. 10.1038/ejhg.2014.279
By:
- Vrijenhoek, Terry;
- Kraaijeveld, Ken;
- Elferink, Martin;
- de Ligt, Joep;
- Kranendonk, Elcke;
- Santen, Gijs;
- Nijman, Isaac J;
- Butler, Derek;
- Claes, Godelieve;
- Costessi, Adalberto;
- Dorlijn, Wim;
- van Eyndhoven, Winfried;
- Halley, Dicky J J;
- van den Hout, Mirjam C G N;
- van Hove, Steven;
- Johansson, Lennart F;
- Jongbloed, Jan D H;
- Kamps, Rick;
- Kockx, Christel E M;
- de Koning, Bart
Publication type:
Article
COL4A2 mutation associated with familial porencephaly and small-vessel disease.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 8, p. 844, doi. 10.1038/ejhg.2012.20
By:
- Verbeek, Elly;
- Meuwissen, Marije EC;
- Verheijen, Frans W;
- Govaert, Paul P;
- Licht, Daniel J;
- Kuo, Debbie S;
- Poulton, Cathryn J;
- Schot, Rachel;
- Lequin, Maarten H;
- Dudink, Jeroen;
- Halley, Dicky J;
- de Coo, René IF;
- den Hollander, Jan C;
- Oegema, Renske;
- Gould, Douglas B;
- Mancini, Grazia MS
Publication type:
Article
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1009, doi. 10.1038/ejhg.2011.60
By:
- van Veghel-Plandsoen, Monique M.;
- Wouters, Cokkie H.;
- Kromosoeto, Joan N. R.;
- den Ridder-Klünnen, Mariska C.;
- Halley, Dicky J. J.;
- van den Ouweland, Ans M. W.
Publication type:
Article
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 2, p. 157, doi. 10.1038/ejhg.2010.156
By:
- Van den Ouweland, Ans M. W.;
- Elfferich, Peter;
- Zonnenberg, Bernard A.;
- Arts, Willem F.;
- Kleefstra, Tjitske;
- Nellist, Mark D.;
- Millan, Jose M.;
- Withagen-Hermans, Caroline;
- Maat-Kievit, Anneke J. A.;
- Halley, Dicky J. J.
Publication type:
Article
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 8, p. 875, doi. 10.1038/ejhg.2008.34
By:
- Kroos, Marian A;
- Mullaart, Reinier A;
- Van Vliet, Laura;
- Pomponio, Robert J;
- Amartino, Hernan;
- Kolodny, Edwin H;
- Pastores, Gregory M;
- Wevers, Ron A;
- Van der Ploeg, Ans T;
- Halley, Dicky J J;
- Reuser, Arnold J J
Publication type:
Article
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 1, p. 59, doi. 10.1038/sj.ejhg.5201276
By:
- Nellist, Mark;
- Sancak, Ozgur;
- Goedbloed, Miriam A.;
- Rohe, Christan;
- van Netten, Diana;
- Mayer, Karin;
- Tucker-Williams, Aimee;
- van den Ouweland, Ans M. W.;
- Halley, Dicky J. J.
Publication type:
Article
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 11, p. 823, doi. 10.1038/sj.ejhg.5200728
By:
- Goedbloed, Miriam A;
- Nellist, Mark;
- Verhaaf, Brenda;
- Reuser, Arnold J J;
- Lindhout, Dick;
- Sunde, Lone;
- Verhoef, Senno;
- Halley, Dicky J J;
- van den Ouweland, Ans M W
Publication type:
Article
Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations.
Published in:
Annals of Neurology, 2010, v. 68, n. 6, p. 876, doi. 10.1002/ana.22092
By:
- Valstar, Marlies J.;
- Neijs, Sanne;
- Bruggenwirth, Hennie T.;
- Olmer, Renske;
- Ruijter, George J. G.;
- Wevers, Ron A.;
- van Diggelen, Otto P.;
- Poorthuis, Ben J.;
- Halley, Dicky J.;
- Wijburg, Frits A.
Publication type:
Article
Development and Function of Immune Cells in an Adolescent Patient with a Deficiency in the Interleukin-10 Receptor.
Published in:
2017
By:
- Veenbergen, Sharon;
- van Leeuwen, Marieke A.;
- Driessen, Gertjan J.;
- Kersseboom, Rogier;
- de Ruiter, Lilian F.;
- Raatgeep, Rolien (H.) C.;
- Lindenbergh-Kortleve, Dicky J.;
- Simons-Oosterhuis, Ytje;
- Biermann, Katharina;
- Halley, Dicky J. J.;
- de Ridder, Lissy;
- Escher, Johanna C.;
- Samsom, Janneke N.;
- Driessen, Gertjan J J
Publication type:
journal article
Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?
Published in:
Human Mutation, 1997, v. 9, n. 5, p. 458, doi. 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1
By:
- Cnossen, Marjon H.;
- van der Est, Mieke N.;
- Breuning, Martijn H.;
- van Asperen, Christi J.;
- Breslau-Siderius, Elisabeth J.;
- van der Ploeg, Ans T.;
- de Goede-Bolder, Arja;
- van den Ouweland, Ans M. W.;
- Halley, Dicky J. J.;
- Niermeijer, Martinus F.
Publication type:
Article
The spectrum of mutations in UBE3A causing Angelman syndrome.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 1, p. 129, doi. 10.1093/hmg/8.1.129
By:
- Fang, Ping;
- Lev-Lehman, Efrat;
- Tsai, Ting-Fen;
- Matsuura, Toshinobu;
- Benton, Claudia S.;
- Sutcliffe, James S.;
- Christian, Susan L.;
- Kubota, Takeo;
- Halley, Dicky J.;
- Meijers-Heijboer, Hanne;
- Langlois, Sylvie;
- Graham Jr, John M.;
- Beuten, Joke;
- Willems, Patrick J.;
- Ledbetter, David H.;
- Beaudet, Arthur L.
Publication type:
Article

Found: 22