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Results: 1-8 |
Results: 8
Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Authors: Lee, HH de Wijs, IJ Sistermans, EA
Citation: Hh. Lee et al., Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, MOL GEN MET, 70(4), 2000, pp. 322-324
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population
Authors: Sistermans, EA de Coo, RFM van Beerendonk, HM Poll-The, BT Kleijer, WJ van Oost, BA
Citation: Ea. Sistermans et al., Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population, EUR J HUM G, 8(7), 2000, pp. 557-560
Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease
Authors: Hobson, GM Davis, AP Stowell, NC Kolodny, EH Sistermans, EA de Coo, IFM Funanage, VL Marks, HG
Citation: Gm. Hobson et al., Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease, NEUROLOGY, 55(8), 2000, pp. 1089-1096
Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy
Authors: Schuelke, M Finckh, B Sistermans, EA Ausems, MGEM Hubner, C von Moers, A
Citation: M. Schuelke et al., Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy, NEUROLOGY, 55(10), 2000, pp. 1584-1586
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations
Authors: Hundscheid, RDL Sistermans, EA Thomas, CMG Braat, DDM Straatman, H Kiemeney, LALM Oostra, BA Smits, APT
Citation: Rdl. Hundscheid et al., Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations, AM J HU GEN, 66(2), 2000, pp. 413-418
A unique second donor splice site in the intron 5 sequence of the HLA-A11alleles results in a class I transcript encoding a molecule with an elongated cytoplasmic domain
Authors: Tijssen, HJ Sistermans, EA Joosten, I
Citation: Hj. Tijssen et al., A unique second donor splice site in the intron 5 sequence of the HLA-A11alleles results in a class I transcript encoding a molecule with an elongated cytoplasmic domain, TISSUE ANTI, 55(5), 2000, pp. 422-428
Complete sequence analysis of the A1103 allele
Authors: Tijssen, HJ Sistermans, EA van den Beucken, M Krausa, P Joosten, I
Citation: Hj. Tijssen et al., Complete sequence analysis of the A1103 allele, TISSUE ANTI, 55(1), 2000, pp. 68-70
Gene symbol: PLP disease: Pelizaeus-Merzbacher disease
Authors: Sistermans, EA de Wijs, IJ Elmslie, F Woodward, K
Citation: Ea. Sistermans et al., Gene symbol: PLP disease: Pelizaeus-Merzbacher disease, HUM GENET, 104(2), 1999, pp. 195-195
Risultati: 1-8 |