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Results: 1-12 |
Results: 12
Persistent failures in gene repair
Authors: van der Steege, G Schuilenga-Hut, PHL Buys, CHCM Scheffer, H Pas, HH Jonkman, MF
Citation: G. Van Der Steege et al., Persistent failures in gene repair, NAT BIOTECH, 19(4), 2001, pp. 305-306
Best practice guidelines for molecular analysis in spinal muscular atrophy
Authors: Scheffer, H Cobben, JM Matthijs, G Wirth, B
Citation: H. Scheffer et al., Best practice guidelines for molecular analysis in spinal muscular atrophy, EUR J HUM G, 9(7), 2001, pp. 484-491
Detection of myocardial viability based on measurement of sodium content: A Na-23-NMR study
Authors: Horn, M Weidensteiner, C Scheffer, H Meininger, M de Groot, M Remkes, H Dienesch, C Przyklenk, K von Kienlin, M Neubauer, S
Citation: M. Horn et al., Detection of myocardial viability based on measurement of sodium content: A Na-23-NMR study, MAGN RES M, 45(5), 2001, pp. 756-764
Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
Authors: Veldink, JH van den Berg, LH Cobben, JM Stulp, RP De Jong, JMBV Vogels, OJ Baas, F Wokke, JHJ Scheffer, H
Citation: Jh. Veldink et al., Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS, NEUROLOGY, 56(6), 2001, pp. 749-753
Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy
Authors: Haagsma, EB Scheffer, H Altland, K De Jager, AEJ Hazenberg, BPC
Citation: Eb. Haagsma et al., Transthyretin Val71Ala mutation in a Dutch family with familial amyloidotic polyneuropathy, AMYLOID, 7(3), 2000, pp. 218-221
SMA carrier testing - validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion
Authors: Scheffer, H Cobben, JM Mensink, RGJ Stulp, RP van der Steege, G Buys, CHCM
Citation: H. Scheffer et al., SMA carrier testing - validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion, EUR J HUM G, 8(2), 2000, pp. 79-86
Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis
Authors: Dequeker, E Cuppens, H Dodge, J Estivill, X Goossens, M Pignatti, PF Scheffer, H Schwartz, M Schwarz, M Tummler, B Cassiman, JJ
Citation: E. Dequeker et al., Recommendations for quality improvement in genetic testing for cystic fibrosis European Concerted Action on Cystic Fibrosis, EUR J HUM G, 8, 2000, pp. S2-S24
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart
Authors: Rake, JP ten Berge, AM Visser, G Verlind, E Niezen-Koning, KE Buys, CHCM Smit, GPA Scheffer, H
Citation: Jp. Rake et al., Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart, EUR J PED, 159(5), 2000, pp. 322-330
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis
Authors: Hut, PHL van der Vlies, P Jonkman, MF Verlind, E Shimizu, H Buys, CHCM Scheffer, H
Citation: Phl. Hut et al., Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis, J INVES DER, 114(4), 2000, pp. 616-619
Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients
Authors: Moog, U de Die-Smulders, CEM Scheffer, H van der Vlies, P Henquet, CJM Jonkman, MF
Citation: U. Moog et al., Epidermolysis bullosa simplex with mottled pigmentation: Clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients, AM J MED G, 86(4), 1999, pp. 376-379
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
Authors: Berends, MJW Hordijk, R Scheffer, H Oosterwijk, JC Halley, DJJ Sorgedrager, N
Citation: Mjw. Berends et al., Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype, AM J MED G, 84(1), 1999, pp. 76-79
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
Authors: Hordijk, R Wierenga, H Scheffer, H Leegte, B Hofstra, RMW Stolte-Dijkstra, I
Citation: R. Hordijk et al., Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype, J MED GENET, 36(10), 1999, pp. 782-785
Risultati: 1-12 |