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- [1] Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patientCLINICA CHIMICA ACTA, 2020, 501 : 131 - 135Fang, Boliang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R ChinaGuo, Jun论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp,Natl Ctr Childrens Hlth, Genet & Birth Defects Control Ctr,MOE Key Lab Maj, Beijing Key Lab Genet Birth Defects,Beijing Pedia, Beijing, Peoples R China Beijing Childrens Hosp, Henan Childrens Hosp, Zhengzhou Hosp, Henan Key Lab Pediat Inherited & Metab Dis, Zhengzhou, Henan, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R ChinaHao, Chanjuan论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp,Natl Ctr Childrens Hlth, Genet & Birth Defects Control Ctr,MOE Key Lab Maj, Beijing Key Lab Genet Birth Defects,Beijing Pedia, Beijing, Peoples R China Beijing Childrens Hosp, Henan Childrens Hosp, Zhengzhou Hosp, Henan Key Lab Pediat Inherited & Metab Dis, Zhengzhou, Henan, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R ChinaGuo, Ruolan论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp,Natl Ctr Childrens Hlth, Genet & Birth Defects Control Ctr,MOE Key Lab Maj, Beijing Key Lab Genet Birth Defects,Beijing Pedia, Beijing, Peoples R China Beijing Childrens Hosp, Henan Childrens Hosp, Zhengzhou Hosp, Henan Key Lab Pediat Inherited & Metab Dis, Zhengzhou, Henan, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R ChinaQian, Suyun论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R ChinaLi, Wei论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp,Natl Ctr Childrens Hlth, Genet & Birth Defects Control Ctr,MOE Key Lab Maj, Beijing Key Lab Genet Birth Defects,Beijing Pedia, Beijing, Peoples R China Beijing Childrens Hosp, Henan Childrens Hosp, Zhengzhou Hosp, Henan Key Lab Pediat Inherited & Metab Dis, Zhengzhou, Henan, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R ChinaJia, Xinlei论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R China Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Pediat Intens Care Unit, Beijing, Peoples R China
- [2] Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt DiseasePLOS ONE, 2014, 9 (03):Zhou, Yu论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Inst Lab Med, Chengdu, Sichuan, Peoples R China Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China Chinese Acad Sci, Sichuan Translat Med Res Hosp, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaTao, Siyu论文数: 0 引用数: 0 h-index: 0机构: Univ Elect Sci & Technol China, Sch Med, Chengdu 610054, Sichuan, Peoples R China Zhengzhou Univ, Peoples Hosp, Henan Eye Hosp, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Peoples Hosp, Henan Eye Inst, Zhengzhou, Henan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaChen, Hui论文数: 0 引用数: 0 h-index: 0机构: Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Dept Ophthalmol, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Inst Lab Anim, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaHuang, Lulin论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Inst Lab Med, Chengdu, Sichuan, Peoples R China Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu 610054, Sichuan, Peoples R China Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China Chinese Acad Sci, Sichuan Translat Med Res Hosp, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaZhu, Xiong论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Inst Lab Med, Chengdu, Sichuan, Peoples R China Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu 610054, Sichuan, Peoples R China Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China Chinese Acad Sci, Sichuan Translat Med Res Hosp, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaLi, Youping论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Inst Lab Med, Chengdu, Sichuan, Peoples R China Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu 610054, Sichuan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaWang, Zhili论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Peoples Hosp, Henan Eye Hosp, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Peoples Hosp, Henan Eye Inst, Zhengzhou, Henan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaLin, He论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Inst Lab Med, Chengdu, Sichuan, Peoples R China Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu 610054, Sichuan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaHao, Fang论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Inst Lab Med, Chengdu, Sichuan, Peoples R China Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu 610054, Sichuan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaYang, Zhenglin论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Inst Lab Med, Chengdu, Sichuan, Peoples R China Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu 610054, Sichuan, Peoples R China Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China Chinese Acad Sci, Sichuan Translat Med Res Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Key Lab NeuroInformat, Minist Educ, Chengdu 610054, Sichuan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaWang, Liya论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Peoples Hosp, Henan Eye Hosp, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Peoples Hosp, Henan Eye Inst, Zhengzhou, Henan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R ChinaZhu, Xianjun论文数: 0 引用数: 0 h-index: 0机构: Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Inst Lab Med, Chengdu, Sichuan, Peoples R China Sichuan Prov Peoples Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Sch Med, Chengdu 610054, Sichuan, Peoples R China Chinese Acad Sci, Chengdu Inst Biol, Chengdu, Sichuan, Peoples R China Chinese Acad Sci, Sichuan Translat Med Res Hosp, Chengdu, Sichuan, Peoples R China Univ Elect Sci & Technol China, Key Lab NeuroInformat, Minist Educ, Chengdu 610054, Sichuan, Peoples R China Xinan Jiaotong Univ, Coll Life Sci & Engn, Chengdu, Sichuan, Peoples R China Sichuan Acad Med Sci, Sichuan Prov Key Lab Human Dis Gene Study, Chengdu, Sichuan, Peoples R China
- [3] Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathyEUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 61 (08) : 434 - 441Zhou, Nianwei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R China Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R ChinaQin, Shengmei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Shanghai Inst Med Imaging,Dept Cardiol, Shanghai 200032, Peoples R China Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R ChinaLi, Yili论文数: 0 引用数: 0 h-index: 0机构: Tongji Univ, Dept Clin Lab, Tongji Hosp, Shanghai 200032, Peoples R China Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R ChinaTang, Lu论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R China Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R ChinaZha, Weipeng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R China Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R ChinaPan, Cuizhen论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R China Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R ChinaQiu, Zilong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Inst Neurosci, State Kay Lab Neurosci, Shanghai 200031, Peoples R China Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R ChinaWang, Xiaolin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhongshan Hosp, Shanghai Inst Med Imaging, Dept Intervent Radiol, Shanghai 200032, Peoples R China Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R ChinaShu, Xianhong论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R China Fudan Univ, Zhongshan Hosp, Shanghai Inst Cardiovasc Dis, Dept Echocardiog,Shanghai Inst Med Imaging, Shanghai 200032, Peoples R China
- [4] WHOLE EXOME SEQUENCING IDENTIFIES RECESSIVE FORM OF FAMILIAL HYPOALPHALIPOPROTEINEMIA WITH COMPOUND HETEROZYGOUS MUTATIONS IN ATP-BINDING CASSETTE TRANSPORTER 1 GENEJOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2015, 65 (10) : A1377 - A1377Tada, Hayato论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Kanazawa, Ishikawa, Japan Kanazawa Univ, Kanazawa, Ishikawa, JapanNohara, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Kanazawa, Ishikawa, Japan Kanazawa Univ, Kanazawa, Ishikawa, JapanKawashiri, Masa-aki论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Kanazawa, Ishikawa, Japan Kanazawa Univ, Kanazawa, Ishikawa, JapanInazu, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Kanazawa, Ishikawa, Japan Kanazawa Univ, Kanazawa, Ishikawa, JapanMabuchi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Kanazawa, Ishikawa, Japan Kanazawa Univ, Kanazawa, Ishikawa, JapanYamagishi, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Kanazawa, Ishikawa, Japan Kanazawa Univ, Kanazawa, Ishikawa, Japan
- [5] Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial HypercholesterolemiaINTERNAL MEDICINE, 2022, 61 (19) : 2883 - 2889Okada, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, JapanTada, Hayato论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, JapanNomura, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, JapanNohara, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, JapanOkeie, Kazuyasu论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, JapanNozue, Tsuyoshi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, JapanMichishita, Ichiro论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, JapanTakamura, Masayuki论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, JapanTakemura, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, JapanKawashiri, Masa-aki论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, Japan Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, Japan
- [6] Exome sequencing identifies MPL as a causative gene in familial aplastic anemiaHAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2012, 97 (04): : 524 - 528Walne, Amanda J.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, England Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, EnglandDokal, Arran论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, England Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, EnglandPlagnol, Vincent论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet Inst, London, England Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, EnglandBeswick, Richard论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, England Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, EnglandKirwan, Michael论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, England Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, Englandde la Fuente, Josu论文数: 0 引用数: 0 h-index: 0机构: St Marys Hosp Paddington, London, England Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, EnglandVulliamy, Tom论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, England Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, EnglandDokal, Inderjeet论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, England Queen Mary Univ London, Barts & London Sch Med & Dent, Blizard Inst, Ctr Paediat, London, England
- [7] Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic CardiomyopathyFRONTIERS IN CARDIOVASCULAR MEDICINE, 2022, 8Yang, Jamie O.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USAShaybekyan, Hapet论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neonatal Congenital Heart Lab, Cardiovasc Res Lab, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USAZhao, Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neonatal Congenital Heart Lab, Cardiovasc Res Lab, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USAKang, Xuedong论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neonatal Congenital Heart Lab, Cardiovasc Res Lab, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USAFishbein, Gregory A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USAKhanlou, Negar论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USAAlejos, Juan C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USAHalnon, Nancy论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USASatou, Gary论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USABiniwale, Reshma论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USALee, Hane论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USAVan Arsdell, Glen论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USANelson, Stanley F.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA Univ Calif Los Angeles, Inst Precis Hlth, David Geffen Sch Med, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USATouma, Marlin论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Neonatal Congenital Heart Lab, Cardiovasc Res Lab, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Inst Precis Hlth, David Geffen Sch Med, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Childrens Discovery & Innovat Inst, David Geffen Sch Med, Dept Pediat, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Mol Biol Inst, David Geffen Sch Med, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Eli & Edythe Broad Stem Cell Res Ctr, David Geffen Sch Med, Los Angeles, CA 90024 USA Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90024 USA
- [8] Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complexSCIENTIFIC REPORTS, 2019, 9 (1)Ye, Yicong论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Anzhen Hosp, Beijing Inst Heart Lung & Blood Vessel Dis, Dept Cardiol, Beijing 100029, Peoples R China Chinese Acad Med Coll, Dept Cardiol, Beijing 100730, Peoples R China Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Capital Med Univ, Beijing Anzhen Hosp, Beijing Inst Heart Lung & Blood Vessel Dis, Dept Cardiol, Beijing 100029, Peoples R ChinaZeng, Yong论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Anzhen Hosp, Beijing Inst Heart Lung & Blood Vessel Dis, Dept Cardiol, Beijing 100029, Peoples R China Chinese Acad Med Coll, Dept Cardiol, Beijing 100730, Peoples R China Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Capital Med Univ, Beijing Anzhen Hosp, Beijing Inst Heart Lung & Blood Vessel Dis, Dept Cardiol, Beijing 100029, Peoples R China
- [9] Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complexScientific Reports, 9Yicong Ye论文数: 0 引用数: 0 h-index: 0机构: Beijing Institute of Heart,Department of CardiologyYong Zeng论文数: 0 引用数: 0 h-index: 0机构: Beijing Institute of Heart,Department of Cardiology
- [10] Whole exome sequencing identifies causative compound heterozygous variants in PRF1 in late-onset familial hemophagocytic lymphohistiocytosisLYMPHOSIGN JOURNAL-THE JOURNAL OF INHERITED IMMUNE DISORDERS, 2022, 9 (04): : 85 - 91Sham, Marina论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Paediat, Div Clin Immunol & Allergy, Toronto, ON, Canada Univ Toronto, Toronto, ON, Canada Hosp Sick Children, Dept Paediat, Div Clin Immunol & Allergy, Toronto, ON, CanadaZhu, Rongbo论文数: 0 引用数: 0 h-index: 0机构: Schulich Sch Med & Dent, Dept Med, Div Clin Immunol & Allergy, London, ON, Canada Hosp Sick Children, Dept Paediat, Div Clin Immunol & Allergy, Toronto, ON, CanadaPasternak, Yehonatan论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Paediat, Div Clin Immunol & Allergy, Toronto, ON, Canada Univ Toronto, Toronto, ON, Canada Kipper Inst Immunol, Schneider Childrens Med Ctr Israel, Allergy & Immunol Unit, Petah Tiqwa, Israel Hosp Sick Children, Dept Paediat, Div Clin Immunol & Allergy, Toronto, ON, Canada