Complete FXN deletion in a patient with Friedreich's ataxia
van den Ouweland, Ans M W, van Minkelen, Rick, Bolman, Galhana M, Wouters, Cokkie H, Becht-Noordermeer, Cindy, Deelen, Wout H, Deelen-Manders, J Marianne C, Ippel, Elly P F, Saris, Jasper, Halley, Dicky J J
Published in Genetic testing and molecular biomarkers (01.09.2012)
Published in Genetic testing and molecular biomarkers (01.09.2012)
Get more information
Journal Article
Univerricht‐Lundborg Disease: Underdiagnosed in the Netherlands
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
Published in Epilepsia (Copenhagen) (01.09.2004)
Published in Epilepsia (Copenhagen) (01.09.2004)
Get full text
Journal Article
Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy
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.
Published in Prenatal diagnosis (01.01.1998)
Published in Prenatal diagnosis (01.01.1998)
Get full text
Journal Article
Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183)
Mulder, M P, Wilke, M, Langeveld, A, Wilming, L G, Hagemeijer, A, van Drunen, E, Zwarthoff, E C, Riegman, P H, Deelen, W H, van den Ouweland, A M
Published in Human genetics (01.08.1995)
Published in Human genetics (01.08.1995)
Get more information
Journal Article
Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes
van den Ouweland, A M, Deelen, W H, Kunst, C B, Uzielli, M L, Nelson, D L, Warren, S T, Oostra, B A, Halley, D J
Published in Human molecular genetics (01.10.1994)
Published in Human molecular genetics (01.10.1994)
Get more information
Journal Article
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome
Meijers-Heijboer, E J, Sandkuijl, L A, Brunner, H G, Smeets, H J, Hoogeboom, A J, Deelen, W H, van Hemel, J O, Nelen, M R, Smeets, D F, Niermeijer, M F
Published in Journal of medical genetics (01.12.1992)
Published in Journal of medical genetics (01.12.1992)
Get full text
Journal Article
Induced-moment ferromagnetic ordering in the singlet-ground state compound TmNi2
DEUTZ, A. F, BROM, H. B, DEELEN, H, DE JONGH, L. J, HUISKAMP, W. J, KUSCHOW, K. H. J
Published in Solid state communications (01.12.1986)
Published in Solid state communications (01.12.1986)
Get full text
Journal Article
The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis
Halley, D J, Veeze, H J, Sandkuyl, L A, Wesby-van Swaay, E, van Damme, N H, Deelen, W H, Witte, J E, Niermeijer, M F
Published in Human genetics (01.09.1990)
Published in Human genetics (01.09.1990)
Get more information
Journal Article
Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)
de Vries, B B, Eussen, B H, van Diggelen, O P, van Der Heide, A, Deelen, W H, Govaerts, L C, Lindhout, D, Wouters, C H, Van Hemel, J O
Published in American journal of medical genetics (19.11.1999)
Published in American journal of medical genetics (19.11.1999)
Get more information
Journal Article
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene
van den Ouweland, A M, de Vries, B B, Bakker, P L, Deelen, W H, de Graaff, E, van Hemel, J O, Oostra, B A, Niermeijer, M F, Halley, D J
Published in American journal of medical genetics (15.07.1994)
Published in American journal of medical genetics (15.07.1994)
Get more information
Journal Article
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23
de Vries, Bert B A, Breedveld, Guido J, Deelen, Wouter H, Breuning, Martijn H, Niermeijer, Martinus F, Heutink, Peter
Published in American journal of medical genetics (01.09.2002)
Published in American journal of medical genetics (01.09.2002)
Get more information
Journal Article
Prenatal detection of major cystic fibrosis mutation
Halley, D J, van Damme, N H, Deelen, W H, Oostra, B A, Jahoda, M G, Sachs, E S, Los, F J, Niermeijer, M F
Published in The Lancet (British edition) (21.10.1989)
Get more information
Published in The Lancet (British edition) (21.10.1989)
Journal Article
Power plant: from water guzzler to water producer
DE VOS, F. G, HEIJBOER, R, VAN DEELEN-BREMER, H. M
Published in Power engineering international (01.12.2008)
Get full text
Published in Power engineering international (01.12.2008)
Magazine Article