Med (Cell Press)· Jan M. Friedman, Anna Lehman, Colleen Guimond, Jill Mwenifumbo, Cyrus Boelman, Patricia Birch, Madeline Couse, Michelle Demos, William T. Gibson, Gabriella Horvath, Elena Lopez-Rangel, Kishore Mulpuri, Millan S. Patel, Indhu-Shree Rajan-Babu, Kathryn Selby, Zong Yi Ha, Clara D.M. van Karnebeek·· 2 天前AI 评分45
复杂神经运动表型患儿基因组测序结果的解读
Interpretation of genome sequencing results in children with complex neuromotor phenotypes
AI 导读
Friedman等对100个复杂神经运动障碍家庭（108名儿童）开展三联体基因组测序，在53个家庭中发现了导致相应表型的遗传性疾病。除测序结果外，综合利用所有可获得的临床信息，是取得较高诊断率的重要因素。
来源：Med (Cell Press) · cell.com