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Results: 1-10 |
Results: 10
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS
Authors: Bliek, J Maas, SM Ruijter, JM Hennekam, RCM Alders, M Westerveld, A Mannens, MMAM
Citation: J. Bliek et al., Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS, HUM MOL GEN, 10(5), 2001, pp. 467-476
A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis
Authors: Aalfs, CM Salieb-Beugelaar, GB Wanders, RJA Mannens, MMAM Wijburg, FA
Citation: Cm. Aalfs et al., A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis, HUM MUTAT, 16(1), 2000, pp. 18-22
Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies
Authors: van den Bogaard, R Fijen, CAP Schipper, MGJ de Galan, L Kuijper, EJ Mannens, MMAM
Citation: R. Van Den Bogaard et al., Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies, EUR J HUM G, 8(7), 2000, pp. 513-518
Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3
Authors: Postma, AV Bezzina, CR de Vries, JF Wilde, AAM Moorman, AFM Mannens, MMAM
Citation: Av. Postma et al., Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3, HUM GENET, 106(6), 2000, pp. 614-619
Delineation and physical separation of novel translocation breakpoints on chromosome 1p in two genetically closely associated childhood tumors
Authors: Steenman, MJC Zijlstra, N Kruitbosch, DL Wiesmeijer, C Larizza, L Voute, PA Westerveld, A Mannens, MMAM
Citation: Mjc. Steenman et al., Delineation and physical separation of novel translocation breakpoints on chromosome 1p in two genetically closely associated childhood tumors, CYTOG C GEN, 88(3-4), 2000, pp. 289-295
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands
Authors: Lombardi, MP Redeker, EJW Defesche, JC Kamerling, SWA Trip, MD Mannens, MMAM Havekes, LM Kastelein, JJP
Citation: Mp. Lombardi et al., Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands, CLIN GENET, 57(2), 2000, pp. 116-124
A knockout may not always be a knockout - Response
Authors: Wilde, AAM Mannens, MMAM Alders, M van der Lip, K Hoorntje, TM Sreeram, N van Tintelen, P van der Wal, A
Citation: Aam. Wilde et al., A knockout may not always be a knockout - Response, CIRCULATION, 102(18), 2000, pp. E122-E122
Cardiac conduction defects associate with mutations in SCN5A
Authors: Schott, JJ Alshinawi, C Kyndt, F Probst, V Hoorntje, TM Hulsbeek, M Wilde, AAM Escande, D Mannens, MMAM Le Marec, H
Citation: Jj. Schott et al., Cardiac conduction defects associate with mutations in SCN5A, NAT GENET, 23(1), 1999, pp. 20-21
A single Na+ channel mutation causing both long-QT and Brugada syndromes
Authors: Bezzina, C Veldkamp, MW van den Berg, MP Postma, AV Rook, MB Viersma, JW van Langen, IM Tan-Sindhunata, G Bink-Boelkens, MTE van der Hout, AH Mannens, MMAM Wilde, AAM
Citation: C. Bezzina et al., A single Na+ channel mutation causing both long-QT and Brugada syndromes, CIRCUL RES, 85(12), 1999, pp. 1206-1213
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome
Authors: Rook, MB Alshinawi, CB Groenewegen, WA van Gelder, IC van Ginneken, ACG Jongsma, HJ Mannens, MMAM Wilde, AAM
Citation: Mb. Rook et al., Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome, CARDIO RES, 44(3), 1999, pp. 507-517
Risultati: 1-10 |