Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships
about
P1343
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal developmentTranscription-coupled DNA repair: two decades of progress and surprisesA novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.Pollitt syndrome patients carry mutation in TTDN1.Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyUncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.Developmental Delays, Fragile Hair, and Ichthyosis Since Infancy.
P2860
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P2860
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships
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2007 nî lūn-bûn
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2007 թուականի Յունուարին հրատարակուած գիտական յօդուած
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2007 թվականի հունվարին հրատարակված գիտական հոդված
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2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年學術文章
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Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
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Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
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Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
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Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
@ast
Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
@en
Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
@nl
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Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
@ast
Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
@en
Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
@nl
P2093
P3181
P356
P1433
P1476
Mutations in the C7orf11 (TTDN ...... notype-phenotype relationships
@en
P2093
Alain Sarasin
Alan R Lehmann
Anja Raams
Daniela Sansone
Giovanna Zambruno
Miria Stefanini
Nicolaas G J Jaspers
Paolo Balestri
Roberta Ricotti
Tiziana Nardo
P2860
P3181
P356
10.1002/HUMU.20419
P407
P4510
P577
2007-01-01T00:00:00Z