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× Non-random X-chromosome inactivation
来源:BMC Cancer
作者:Yi-Chih Chien;Hsien-Chang Tsai;Shou-Tung Chen;等
关键词:Xq25;Loss of heterozygosity;...
来源:BMC Cancer
作者:Yi-Chih Chien;Hsien-Chang Tsai;Shou-Tung Chen;等
关键词:Xq25;Loss of heterozygosity;...
3 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy [期刊论文]
来源:Orphanet Journal of Rare Diseases
作者:Carmen Ayuso;Brendan Keating;Xun Xu;等
关键词:Neuropathy;Phosphoribosyl pyrophosphate synthetase deficiency;...
4 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy [期刊论文]
来源:Orphanet Journal of Rare Diseases
作者:Carmen Ayuso;Brendan Keating;Xun Xu;等
关键词:Neuropathy;Phosphoribosyl pyrophosphate synthetase deficiency;...