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patient c 7orf mutation deletion repair tfiih c 7orf gene patient ttd 31pv nonphotosensitive level trichothiodystrophy genomic stefanini protein region dna repair allele subunit ttd patients transcription italy nonphotosensitive form feature codon nakabayashi severity deletion c .148_152delcacac c 7orf alleles c 7orf protein photosensitivity lehmann patient ttd 16pv disease primers ttd 10ro ttdn 1 fibroblast sequence factor analysis light grant defect study initiation parent disorder response 941 c patients ttd 16pv nardo t patient ttd 11ro .148_152delcacac botta stefanini m nonphotosensitive ttd cases netherland genomic dna frameshift r 2006 wiley-liss p 44 subunits disease gene nonphotosensitive ttd patients hoeijmakers jh p 62 subunit ttd 31pv ttd 11ro nucleotide p.ser heterogeneity symptom 50alafsx jasper number 93profsx column genet 10.1002/ vermeulen result
2 Most Recent Publications
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Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: No obvious genotype-phenotype relationships
(Article)
Botta, E. Offman, J. Sarasin, A. Lehmann, A.R. Stefanini, M. Nardo, T. Ricotti, R. Zambruno, G. Sansone, D. Balestri, P. Raams, A. Kleijer, W.J. Jaspers, N.G.J. |
2007-01-01
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An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito
(Article)
Eussen, B.H.J. Verhoef, S. Ouweland, A.M.W. van den Ris-Stalpers, C. Fois, A. Halley, D.J.J. Bartalini, G. Bakker, L. Balestri, P. Lucca, C. di Hemel, J.O. van Dauwerse, H. |
2000-01-01
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