未登录 Deep phenotyping using principal component analysis effectively arrays XPD (ERCC2) xeroderma pigmentosum and trichothiodystrophy patient phenotypes: The XP-TTD coefficient Pugh, J. M.; Nelson, G. W.; Levoska, M. A.; Hanona, P. F.; Tamura, D.; Heller, E. R.; Khan, S. G.; Scheibye-Knudsen, M.; DiGiovanna, J. J.; Kraemer, K. H. 分享 收藏
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Use of hierarchical clustering and principal component analysis for deep phenotyping of patients with mutations in XPD (ERCC2): trichothiodystrophy (TTD), xeroderma pigmentosum (XP) and XP/TTD Levoska, M.; Pugh, J.; Nelson, G.; Hanona, P.; Tamura, D.; Heller, E.; Khan, S. G.; Scheibye-Knudsen, M.; DiGiovanna, J. J.; Kraemer, K. H. 分享 收藏
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function 由耳蜗毛细胞功能所需的新基因TMC1突变引起的显性和隐性耳聋 Kurima, K; Peters, LM; Yang, YD; Riazuddin, S; Ahmed, ZM; Naz, S; Arnaud, D; Drury, S; Mo, JH; Makishima, T; Ghosh, M; Menon, PSN; Deshmukh, D; Oddoux, C; Ostrer, H; Khan, S; Riazuddin, S; Deininger, PL; Hampton, LL; Sullivan, SL; Battey, JF; Keats, BJB; Wilcox, ER; Friedman, TB; Griffith, AJ 分享 收藏
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