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scopus: 7005605610

Haaf, T.

(Thomas Haaf)


patient 19 q 12 / european journal duplication ataxia chromosomal genet breakpoint telangiectasia genetic locus range panel genomic atm gene mutation culture lymphocytes blood region level analysis 14 q 11 tcl 1 locus phenotype chromosome metaphase journal fl ow cytometry month probe saliva-derived dna sample retardation european exon 22 snp array-based disorder tcrad locus ataxia telangiectasia nding rearrangement inversion cycle leukemia tcrad firmed delay damage t-cell pha-stimulated parent result ratio diagnosis response speech delay fi ndings radiosensitivity deletion oculomotor apraxia 3.14 mb microduplication sample interphase nuclei bartsch pleckstrin homology domain dna damage responses 2- bp deletion 3 months t-cell receptor cluster 14 q 32 signal fl anking serum afp levels ubiquinol-cytochrome c reductase gene 2 b c .2922-50_2940del karyotyping percentile blood lymphocytes genomic rearrangements c .510_511delgt




1 Most Recent Publications

A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12 (Article)
Bartsch, O. Schindler, D. Poot, M. Beyer, V. Gesk, S. Van'T Slot, R. Feddersen, I. Buijs, A. Jaspers, N.G.J. Siebert, R. Haaf, T.
2012-01-01