机译:下一代测序揭示了46例的遗传景观,性发育患者的可变表型患者的XY疾病
Department of Endocrinology Shanghai Ninth People’s Hospital Shanghai Jiao Tong University School;
Research Centre for Clinical Medicine Shanghai Ninth People’s Hospital Shanghai Jiao Tong;
Department of Endocrinology Shanghai Ninth People’s Hospital Shanghai Jiao Tong University School;
Department of Endocrinology Shanghai Ninth People’s Hospital Shanghai Jiao Tong University School;
Department of Endocrinology Shanghai Ninth People’s Hospital Shanghai Jiao Tong University School;
Research Centre for Clinical Medicine Shanghai Ninth People’s Hospital Shanghai Jiao Tong;
Department of Urology Shanghai Ninth People’s Hospital Shanghai Jiao Tong University School of;
Department of Endocrinology Shanghai Ninth People’s Hospital Shanghai Jiao Tong University School;
Department of Endocrinology Shanghai Ninth People’s Hospital Shanghai Jiao Tong University School;
Department of Endocrinology Shanghai Ninth People’s Hospital Shanghai Jiao Tong University School;
Department of Plastic Surgery Shanghai Ninth People’s Hospital Shanghai Jiao Tong University;
Department of Plastic Surgery Shanghai Ninth People’s Hospital Shanghai Jiao Tong University;
Research Centre for Clinical Medicine Shanghai Ninth People’s Hospital Shanghai Jiao Tong;
Research Centre for Clinical Medicine Shanghai Ninth People’s Hospital Shanghai Jiao Tong;
Department of Endocrinology Shanghai Ninth People’s Hospital Shanghai Jiao Tong University School;
机译:下一代测序揭示了46例的遗传景观,性发育患者的可变表型患者的XY疾病
机译:在NR5A1 / SF-1基因中出现新的杂合突变,导致性发育有46,XY障碍的患者中保持生育能力:受影响亲戚的多个成员中46,XY和46,XX性腺发育不良表型变异的证据
机译:下一代测序揭示具有46,XY DSD的成年人的新型遗传变异(SRY,DMRT1,NR5A1,DHH,DHX37)
机译:靶向下一代测序的特发性代谢障碍的遗传检测
机译:具有下一代测序数据的多种表型遗传研究中因果推理的稀疏结构方程模型。
机译:下一代测序揭示具有46XY DSD的成年人的新型遗传变异(SRYDMRT1NR5A1DHHDHX37)
机译:46,XY核型的患者卵形性开发病症