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Results: 1-8 |
Results: 8
Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis
Authors: Dreesen, JCFM Jacobs, LJAM Bras, M Herbergs, J Dumoulin, JCM Geraedts, JPM Evers, JLH Smeets, HJM
Citation: Jcfm. Dreesen et al., Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis, MOL HUM REP, 6(5), 2000, pp. 391-396
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families (vol 13,pg 301, 1998)
Authors: Jongbloed, RJE Wilde, AAM Geelen, JLMC Doevendans, F Schaap, C Van Langen, I van Tintelen, JP Cobben, JM Beaufort-Krol, GCM Geraedts, JPM Smeets, HJM
Citation: Rje. Jongbloed et al., Novel KCNQ1 and HERG missense mutations in Dutch long-QT families (vol 13,pg 301, 1998), HUM MUTAT, 14(1), 1999, pp. 86-86
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families
Authors: Jongbloed, RJE Wilde, AAM Geelen, JLMC Doevendans, P Schaap, C Van Langen, I van Tintelen, JP Cobben, JM Beaufort-Krol, GCM Geraedts, JPM Smeets, HJM
Citation: Rje. Jongbloed et al., Novel KCNQ1 and HERG missense mutations in Dutch long-QT families, HUM MUTAT, 13(4), 1999, pp. 301-310
The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I
Authors: de Coo, RFM Buddiger, PAL Smeets, HJM van Oost, BA
Citation: Rfm. De Coo et al., The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I, MAMM GENOME, 10(1), 1999, pp. 49-53
Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS(2)) patients from KVLQT1-related patients (LQTS(1))
Authors: Wilde, AAM Jongbloed, RJE Doevendans, PA Duren, DR Hauer, RNW van Langen, IM van Tintelen, JP Smeets, HJM Meyer, H Geelen, JLMC
Citation: Aam. Wilde et al., Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS(2)) patients from KVLQT1-related patients (LQTS(1)), J AM COL C, 33(2), 1999, pp. 327-332
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome
Authors: De Coo, IFM Renier, WO Ruitenbeek, W Ter Laak, HJ Bakker, M Schagger, H Van Oost, BA Smeets, HJM
Citation: Ifm. De Coo et al., A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome, ANN NEUROL, 45(1), 1999, pp. 130-133
Identification of COL4 A5 defects in Alport's syndrome by immunohistochemistry of skin (vol 55, pg 1217, 1999)
Authors: Van der Loop, FTL Monnens, LAH Schroder, CH Lemmink, HH Breuning, MH Timmer, EDJ Smeets, HJM
Citation: Ftl. Van Der Loop et al., Identification of COL4 A5 defects in Alport's syndrome by immunohistochemistry of skin (vol 55, pg 1217, 1999), KIDNEY INT, 56(6), 1999, pp. 2337-2337
Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin
Authors: van der Loop, FTL Monnens, LAH Schroder, CH Lemmink, HH Breuning, MH Timmer, EDJ Smeets, HJM
Citation: Ftl. Van Der Loop et al., Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin, KIDNEY INT, 55(4), 1999, pp. 1217-1224
Risultati: 1-8 |