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机译:与新的KIF5A突变有关的植入型痉挛性痉挛性截瘫/ Ataxia / Als表型
Genomics and Molecular MedicineCSIR‐Institute of Genomics and Integrative BiologyNew Delhi India;
Genomics and Molecular MedicineCSIR‐Institute of Genomics and Integrative BiologyNew Delhi India;
Genomics and Molecular MedicineCSIR‐Institute of Genomics and Integrative BiologyNew Delhi India;
Genomics and Molecular MedicineCSIR‐Institute of Genomics and Integrative BiologyNew Delhi India;
Genomics and Molecular MedicineCSIR‐Institute of Genomics and Integrative BiologyNew Delhi India;
Genomics and Molecular MedicineCSIR‐Institute of Genomics and Integrative BiologyNew Delhi India;
Department of Neuro‐radiologyAll India Institute of Medical SciencesDelhi India;
Department of NeurologyAll India Institute of Medical SciencesDelhi India;
机译:与新的KIF5A突变有关的植入型痉挛性痉挛性截瘫/ Ataxia / Als表型
机译:STUB1突变的表型和频率:白种人共济失调和痉挛性截瘫人群的下一代筛查
机译:STUB1突变的表型和频率:白种人共济失调和痉挛性截瘫人群的下一代筛查
机译:通过多尺度计算模型将新型突变与其短QT表型联系起来
机译:婴儿起病的脊髓小脑共济失调13型突变导致发展和快速退化的表型与浦肯野细胞过度兴奋有关。
机译:X导致复杂性痉挛性截瘫MASA综合征X导致脑积水归因于先天性西尔维斯输水管狭窄:Xq28处相同突变的可变表达。
机译:STUB1突变的表型和频率:白种人共济失调和痉挛性截瘫人群的下一代筛查