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Results: 1-7 |
Results: 7
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
Authors: Leegwater, PAJ Vermeulen, G Konst, AAM Naidu, S Mulders, J Visser, A Kersbergen, P Mobach, D Fonds, D van Berkel, CGM Lemmers, RJLF Frants, RR Oudejans, CBM Schutgens, RBH Pronk, JC van der Knaap, MS
Citation: Paj. Leegwater et al., Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter, NAT GENET, 29(4), 2001, pp. 383-388
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM
Authors: de Winter, JP Rooimans, MA van der Weel, L van Berkel, CGM Alon, N Bosnoyan-Collins, L de Groot, J Zhi, Y Waisfisz, Q Pronk, JC Arwert, F Mathew, CG Scheper, RJ Hoatlin, ME Buchwald, M Joenje, H
Citation: Jp. De Winter et al., The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM, NAT GENET, 24(1), 2000, pp. 15-16
Isolation of a cDNA representing the Fanconi anemia complementation group E gene
Authors: de Winter, JP Leveille, F van Berkel, CGM Rooimans, MA van der Weel, L Steltenpool, J Demuth, I Morgan, NV Alon, N Bosnoyan-Collins, L Lightfoot, J Leegwater, PA Waisfisz, Q Komatsu, K Arwert, F Pronk, JC Mathew, CG Digweed, M Buchwald, M Joenje, H
Citation: Jp. De Winter et al., Isolation of a cDNA representing the Fanconi anemia complementation group E gene, AM J HU GEN, 67(5), 2000, pp. 1306-1308
Complementation analysis in Fanconi anemia: Assignment of the reference FA-H patient to group A
Authors: Joenje, H Levitus, M Waisfisz, Q D'Andrea, A Garcia-Higuera, I Pearson, T van Berkel, CGM Rooimans, MA Morgan, N Mathew, CG Arwert, F
Citation: H. Joenje et al., Complementation analysis in Fanconi anemia: Assignment of the reference FA-H patient to group A, AM J HU GEN, 67(3), 2000, pp. 759-762
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism
Authors: Waisfisz, Q Morgan, NV Savino, M de Winter, JP van Berkel, CGM Hoatlin, ME Ianzano, L Gibson, RA Arwert, F Savoia, A Mathew, CG Pronk, JC Joenje, H
Citation: Q. Waisfisz et al., Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism, NAT GENET, 22(4), 1999, pp. 379-383
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene
Authors: Wijker, M Morgan, NV Herterich, S van Berkel, CGM Tipping, AJ Gross, HJ Gille, JJP Pals, G Savino, M Altay, C Mohan, S Dokal, I Cavenagh, J Marsh, J Van Weel, M Ortega, JJ Schuler, D Samochatova, E Karwacki, M Bekassy, AN Abecasis, M Ebell, W Kwee, ML de Ravel, T Gibson, RA Gluckman, E Arwert, F Joenje, H Savoia, A Hoehn, H Pronk, JC Mathew, CG
Citation: M. Wijker et al., Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene, EUR J HUM G, 7(1), 1999, pp. 52-59
Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3
Authors: Cleton-Jansen, AM Moerland, EW Pronk, JC van Berkel, CGM Apostolou, S Crawford, J Savoia, A Auerbach, AD Mathew, CG Callen, DF Cornelisse, CJ
Citation: Am. Cleton-jansen et al., Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3, BR J CANC, 79(7-8), 1999, pp. 1049-1052
Risultati: 1-7 |