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- [32] Novel Recurrent Mutations in Eldheim-Chester Disease Patients Identified By Whole Exome Sequencing and Whole Genome SequencingBLOOD, 2021, 138Okayama, Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, Japan Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, JapanHonda, Akira论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, Japan Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, JapanMatsuda, Kensuke论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, Japan Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, JapanMizuno, Hideaki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, Japan Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, JapanTaoka, Kazuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, Japan Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, JapanKurokawa, Moneo论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, Japan Univ Tokyo, Grad Sch Med, Dept Hematol & Oncol, Tokyo, Japan
- [33] Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patientsCLINICA CHIMICA ACTA, 2018, 487 : 264 - 269Chen, Yulin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Pediat Translat Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaLi, Guoqiang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Pediat Translat Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaXu, Yufei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Pediat Translat Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaYu, Tingting论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Pediat Translat Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaZhang, Yi论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Pediat Translat Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaLi, Niu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Pediat Translat Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaYao, Ru-en论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Pediat Translat Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaZhou, Yunfang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Pediat, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaWang, Xiumin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Pediat, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaShen, Yiping论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China Boston Childrens Hosp, Boston, MA 02115 USA Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaYin, Lei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Pediat, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Mol Diagnost Lab, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Inst Pediat Translat Med, Shanghai 200127, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Med Genet, Shanghai 200127, Peoples R China
- [34] Whole-exome sequencing identified novel mutations in FGA and FGG genes in the patients with decreased fibrinogenTHROMBOSIS RESEARCH, 2019, 177 : 79 - 82Cao, Zheng论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R ChinaDong, Ying论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R ChinaZeng, Jiazi论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R ChinaZhu, Hongyuan论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R ChinaXie, Xin论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R ChinaLiu, Jingrui论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R ChinaZhai, Yanhong论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R ChinaLi, Lin论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Obstet & Gynecol Hosp, Cent Lab, Beijing 100026, Peoples R China Capital Med Univ, Beijing Obstet & Gynecol Hosp, Dept Lab Med, Beijing 100026, Peoples R China
- [35] Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome SequencingCARDIOVASCULAR INNOVATIONS AND APPLICATIONS, 2020, 4 (04) : 229 - 237Peng, Ying论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R ChinaMiao, Jinxin论文数: 0 引用数: 0 h-index: 0机构: Henan Univ Chinese Med, Acad Chinese Med Sci, Zhengzhou 450046, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R ChinaZhai, Yafei论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R ChinaFang, Guangming论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R ChinaWang, Chuchu论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Coll Life Sci, Zhengzhou 450000, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R ChinaWang, Yaohe论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Acad Med Sci, Sch Basic Sci, Sino British Res Ctr Mol Oncol,Natl Ctr Int Res C, Zhengzhou 450052, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R ChinaZhao, Xiaoyan论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R ChinaDong, Jianzeng论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R China Capital Med Univ, Beijing Anzhen Hosp, Beijing 100029, Peoples R China Zhengzhou Univ, Affiliated Hosp 1, Dept Cardiol, Zhengzhou 450052, Henan, Peoples R China
- [36] Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencingANDROLOGIA, 2020, 52 (07)Zhang, Qin论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Endocrinol, Changsha, Peoples R China Cent South Univ, Dept Endocrinol, Changsha, Peoples R ChinaHe, Hong-hui论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Endocrinol, Changsha, Peoples R China Cent South Univ, Dept Endocrinol, Changsha, Peoples R ChinaJanjua, Muhammad Usman论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Endocrinol, Changsha, Peoples R China Cent South Univ, Dept Endocrinol, Changsha, Peoples R ChinaWang, Fang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Endocrinol, Changsha, Peoples R China Cent South Univ, Dept Endocrinol, Changsha, Peoples R ChinaYang, You-bo论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Endocrinol, Changsha, Peoples R China Cent South Univ, Dept Endocrinol, Changsha, Peoples R ChinaMo, Zhao-hui论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Endocrinol, Changsha, Peoples R China Cent South Univ, Dept Endocrinol, Changsha, Peoples R ChinaLiu, Jun论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Endocrinol, Changsha, Peoples R China Cent South Univ, Dept Endocrinol, Changsha, Peoples R ChinaJin, Ping论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Dept Endocrinol, Changsha, Peoples R China Cent South Univ, Dept Endocrinol, Changsha, Peoples R China
- [37] Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataractInternational Journal of Ophthalmology, 2018, 11 (10) : 1577 - 1582Peng Chen论文数: 0 引用数: 0 h-index: 0机构: Qingdao University Qingdao UniversityHao Chen论文数: 0 引用数: 0 h-index: 0机构: Qingdao University Qingdao UniversityXiao-Jing Pan论文数: 0 引用数: 0 h-index: 0机构: Shandong Eye Institute Qingdao UniversitySu-Zhen Tang论文数: 0 引用数: 0 h-index: 0机构: Qingdao University Qingdao UniversityYu-Jun Xia论文数: 0 引用数: 0 h-index: 0机构: Qingdao University Qingdao UniversityHui Zhang论文数: 0 引用数: 0 h-index: 0机构: Jinan Second People's Hospital Qingdao University
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Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyHaberberger, Birgit论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyWieland, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyKremer, Laura论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyStrecker, Valentina论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Fac Med, SFB Core Unit 815, D-60590 Frankfurt, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyGraf, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyMemari, Yasin论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, Cambs, England Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyAhting, Uwe论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyKopajtich, Robert论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyWortmann, Saskia B.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders, NL-6500 HB Nijmegen, Netherlands Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyRodenburg, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat, Nijmegen Ctr Mitochondrial Disorders, NL-6500 HB Nijmegen, Netherlands Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyKotzaeridou, Urania论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Gen Pediat, Div Inherited Metab Dis, D-69120 Heidelberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyHoffmann, Georg F.论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Gen Pediat, Div Inherited Metab Dis, D-69120 Heidelberg, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanySperl, Wolfgang论文数: 0 引用数: 0 h-index: 0机构: Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyWittig, Ilka论文数: 0 引用数: 0 h-index: 0机构: Goethe Univ Frankfurt, Fac Med, SFB Core Unit 815, D-60590 Frankfurt, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyWilichowski, Ekkehard论文数: 0 引用数: 0 h-index: 0机构: Univ Med Gottingen, Dept Pediat & Pediat Neurol, D-37075 Gottingen, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanySchottmann, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Charite, Dept Neuropediat, D-13125 Berlin, Germany Charite, NeuroCure Clin Res Ctr, D-13125 Berlin, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanySchuelke, Markus论文数: 0 引用数: 0 h-index: 0机构: Charite, Dept Neuropediat, D-13125 Berlin, Germany Charite, NeuroCure Clin Res Ctr, D-13125 Berlin, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyPlecko, Barbara论文数: 0 引用数: 0 h-index: 0机构: Kinderspital Zurich, Dept Neurol, CH-8032 Zurich, Switzerland Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyStephani, Ulrich论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Dept Neuropediat, D-24105 Kiel, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyMeitinger, Thomas论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyProkisch, Holger论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-81675 Munich, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyFreisinger, Peter论文数: 0 引用数: 0 h-index: 0机构: Klinikum Reutlingen, Dept Pediat, Inherited Metab Dis Ctr, D-72764 Reutlingen, Germany Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany