机译:用复杂的染色体重排和低血吸同胞亢进性低因素的雄性全基因组测序鉴定的FGFR1 FGFR1破坏
Department of PediatricsHamamatsu University School of MedicineHamamatsu Japan;
Okamoto Endocrine ClinicNara Japan;
Department of PediatricsHamamatsu University School of MedicineHamamatsu Japan;
Department of Molecular EndocrinologyNational Research Institute for Child Health and;
Department of BiochemistryHamamatsu University School of MedicineHamamatsu Japan;
Department of PediatricsHamamatsu University School of MedicineHamamatsu Japan;
机译:用复杂的染色体重排和低血吸同胞亢进性低因素的雄性全基因组测序鉴定的FGFR1 FGFR1破坏
机译:全基因组测序显示复杂的染色体重新排列,扰乱Cornelia de Lange综合症中婴儿中的NIPBL
机译:罕见的患者遗传复合染色体重排中全基因组伴侣对鉴定的隐秘断点
机译:扩展基因组重排的代数形式主义,以包括线性染色体
机译:果蝇基因组中的基因复制和染色体重排。
机译:简短报告:通过全基因组测序进行断点定位可确定患有中线颅突病和从头平衡染色体重排的患者的PTH2R基因破坏
机译:kAL1,FGFR1,GPR54和Nelf拷贝数变化通过多重结扎依赖于特发性低血管性腺性腺性腺性腺性腺性腺性腺性腺性腺性腺增生患者的多重结扎依赖性探测扩增