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Results: 1-10 |
Results: 10
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
Authors: van Diggelen, OP Thobois, S Tilikete, C Zabot, MT Keulemans, JLM van Bunderen, PA Taschner, PEM Losekoot, M Voznyi, YV
Citation: Op. Van Diggelen et al., Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease, ANN NEUROL, 50(2), 2001, pp. 269-272
First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis(LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis
Authors: Kleijer, WJ van Diggelen, OP Keulemans, JLM Losekoot, M Garritsen, VH Stroink, H Majoor-Krakauer, D Franken, PF Eurlings, MCM Taschner, PEM Los, FJ Galjaard, RJH
Citation: Wj. Kleijer et al., First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis(LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis, PRENAT DIAG, 21(2), 2001, pp. 99-101
Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease
Authors: Maat-Kievit, A Helderman-van den Enden, P Losekoot, M de Knijff, P Belfroid, R Vegter-van der Vlis, M Roos, R Breuning, M
Citation: A. Maat-kievit et al., Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease, AM J MED G, 105(8), 2001, pp. 737-744
Paradox of a better test for Huntington's disease
Authors: Maat-Kievit, A Vegter-van der Vlis, M Zoeteweij, M Losekoot, M van Haeringen, A Roos, R
Citation: A. Maat-kievit et al., Paradox of a better test for Huntington's disease, J NE NE PSY, 69(5), 2000, pp. 579-583
Family history and DNA analysis in patients with suspected Huntington's disease
Authors: Siesling, S Vegter-van de Vlis, M Losekoot, M Belfroid, RDM Maat-Kievit, JA Kremer, HPH Roos, RAC
Citation: S. Siesling et al., Family history and DNA analysis in patients with suspected Huntington's disease, J NE NE PSY, 69(1), 2000, pp. 54-59
A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease
Authors: Losekoot, M Bakker, B Laccone, F Stenhouse, S Elles, R
Citation: M. Losekoot et al., A European pilot quality assessment scheme for molecular diagnosis of Huntington's disease, EUR J HUM G, 7(2), 1999, pp. 217-222
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis
Authors: de Vries, BBA Kleijer, WJ Keulemans, JLM Voznyi, YV Franken, PF Eurlings, MCM Galjaard, RJ Losekoot, M Catsman-Berrevoets, CE Breuning, MH Taschner, PEM van Diggelen, OP
Citation: Bba. De Vries et al., First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis, PRENAT DIAG, 19(6), 1999, pp. 559-562
Experience in prenatal testing for Huntington's disease in the Netherlands: Procedures, results and guidelines (1987-1997)
Authors: Maat-Kievit, A Vegter-van der Vlis, M Zoeteweij, M Losekoot, M van Haeringen, A Kanhai, H Roos, R
Citation: A. Maat-kievit et al., Experience in prenatal testing for Huntington's disease in the Netherlands: Procedures, results and guidelines (1987-1997), PRENAT DIAG, 19(5), 1999, pp. 450-457
Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997)
Authors: Maat-Kievit, A Vlis, MV Zoeteweij, M Losekoot, M van Haeringen, A Roos, RAC
Citation: A. Maat-kievit et al., Predictive testing of 25 percent at-risk individuals for Huntington disease (1987-1997), AM J MED G, 88(6), 1999, pp. 662-668
Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities
Authors: Helderman-van den Enden, ATJM Maaswinkel-Mooij, PD Hoogendoorn, E Willemsen, R Maat-Kievit, JA Losekoot, M Oostra, BA
Citation: Atjm. Helderman-van Den Enden et al., Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities, J MED GENET, 36(3), 1999, pp. 253-257
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