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- [31] 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
- [32] Exome Sequencing Identifies INPPL1 Mutations as a Cause of OpsismodysplasiaAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (01) : 144 - 149论文数: 引用数: h-index:机构:Faqeih, Eissa Ali论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Pediat, King Fahad Med City, Riyadh 11525, Saudi Arabia Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceBartholdi, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Zurich, Inst Med Genet, CH-8603 Schwerzenbach, Switzerland Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceBole-Feysot, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceBorochowitz, Zvi论文数: 0 引用数: 0 h-index: 0机构: Technion Israel Inst Technol, Simon Winter Inst Human Genet, Bnai Zion Med Ctr, Rappaport Fac Med, IL-31048 Haifa, Israel Technion Israel Inst Technol, Res Inst, IL-31048 Haifa, Israel Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceCavalcanti, Denise P.论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, UNICAMP, Grp Displasias Esquelet, Dpto Genet Med,FCM, BR-13081970 Campinas, SP, Brazil Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceFrigo, Amandine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, France Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, France论文数: 引用数: h-index:机构:Roume, Joelle论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceSantos, Heloisa G.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ S Maria, Serv Genet Med, Dept Med Genet, P-1649035 Lisbon, Portugal Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceShalev, Stavit A.论文数: 0 引用数: 0 h-index: 0机构: Technion Israel Inst Technol, HaEmek Med Ctr, IL-31096 Haifa, Israel Technion Israel Inst Technol, Rapapport Fac Med, IL-31096 Haifa, Israel Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, France论文数: 引用数: h-index:机构:Delezoide, Anne-Lise论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Diderot, Hop Robert Debre, Serv Biol Dev, F-75019 Paris, France Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceLe Merrer, Martine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, France Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceMunnich, Arnold论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, France Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, FranceCormier-Daire, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, France Univ Paris Descartes Sorbonne Paris Cite, INSERM, Unite U781, Hop Necker Enfants Malad,Dept Genet,Fdn Imagine, F-75015 Paris, France
- [33] Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case ReportFRONTIERS IN GENETICS, 2021, 11Liu, Jiao论文数: 0 引用数: 0 h-index: 0机构: Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaZhang, Xingyu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Inst Pediat Translat Med, Shanghai Childrens Med Ctr, Sch Med, Shanghai, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaWang, Weilan论文数: 0 引用数: 0 h-index: 0机构: Shaoxing Cent Hosp, Dept Dermatol, Shaoxing, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaLan, Xiaofang论文数: 0 引用数: 0 h-index: 0机构: Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaDong, Minyue论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Womens Hosp, Dept Reprod Genet, Hangzhou, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaYan, Kai论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Womens Hosp, Dept Reprod Genet, Hangzhou, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaLei, Yongliang论文数: 0 引用数: 0 h-index: 0机构: Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaChen, Penglong论文数: 0 引用数: 0 h-index: 0机构: Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaYang, Mufeng论文数: 0 引用数: 0 h-index: 0机构: Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaShan, Qunda论文数: 0 引用数: 0 h-index: 0机构: Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R ChinaJin, Chunlei论文数: 0 引用数: 0 h-index: 0机构: Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R China Lishui Matern & Child Hlth Care Hosp, Ctr Med Prenatal Diag, Lishui, Peoples R China
- [34] The role of clinical exome sequencing in genetic diagnosing of skeletal dysplasia in fetus detected by prenatal ultrasound in VietnamGENETICS IN MEDICINE, 2022, 24 (03) : S299 - S299Tran Trang论文数: 0 引用数: 0 h-index: 0机构: GeneSolutions, Ho Chi Minh City, Vietnam GeneSolutions, Ho Chi Minh City, VietnamNguyen Huong论文数: 0 引用数: 0 h-index: 0机构: GeneSolutions, Ho Chi Minh City, Vietnam GeneSolutions, Ho Chi Minh City, Vietnam
- [35] Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephalySAUDI JOURNAL OF BIOLOGICAL SCIENCES, 2021, 28 (05) : 2824 - 2829Naseer, Muhammad Imran论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi Arabia King Abdulaziz Univ, Fac Appl Med Sci, Dept Med Lab Technol, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi ArabiaAbdulkareem, Angham Abdulrahman论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi Arabia King Abdulaziz Univ, Fac Sci, Dept Biochem, Jeddah, Saudi Arabia King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi ArabiaMuthaffar, Osama Yousef论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Dept Pediat, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi ArabiaChaudhary, Adeel G.论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi Arabia King Abdulaziz Univ, Fac Appl Med Sci, Dept Med Lab Technol, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, Ctr Innovat Personalized Med, Jeddah 21589, Saudi Arabia King Abdulaziz Univ, Ctr Excellence Genom Med Res, Jeddah, Saudi Arabia
- [36] 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
- [37] Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigreeCLINICA CHIMICA ACTA, 2016, 460 : 135 - 137Wang, Zhihong论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R China Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R ChinaLin, Yanhong论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R China Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R ChinaZheng, Dezhu论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R China Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R ChinaYan, Aizhen论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R China Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R ChinaTu, Xiangdong论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R China Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R ChinaLin, Juan论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R China Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R ChinaLan, Fenghua论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R China Xiamen Univ, Dongfang Hosp, Res Ctr Mol Diag Genet Dis, Coll Med, Fuzhou, Peoples R China
- [38] EXOME SEQUENCING IDENTIFIES A COMPOUND HETEROZYGOUS MUTATION IN A GENE FROM HISTONE METHYL TRANSFERASE COMPLEX IN FAMILIAL SCHIZOPHRENIAEUROPEAN NEUROPSYCHOPHARMACOLOGY, 2017, 27 : S250 - S251John, Jibin论文数: 0 引用数: 0 h-index: 0机构: Univ Delhi, New Delhi, India Univ Delhi, New Delhi, IndiaKukshal, Prachi论文数: 0 引用数: 0 h-index: 0机构: Univ Delhi, Dept Genet, South Campus, New Delhi, India Univ Delhi, New Delhi, IndiaBhatia, Triptish论文数: 0 引用数: 0 h-index: 0机构: Dr RML Hosp, Dept Psychiat, New Delhi, India Univ Delhi, New Delhi, IndiaDeshpande, Smita N.论文数: 0 引用数: 0 h-index: 0机构: Dr RML Hosp, Dept Psychiat, New Delhi, India Univ Delhi, New Delhi, IndiaNimgaonkar, Vishwajit L.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Western Psychiat Inst & Clin, Dept Psychiat, Pittsburgh, PA 15260 USA Univ Pittsburgh, Western Psychiat Inst & Clin, Dept Human Genet, Pittsburgh, PA 15260 USA Univ Delhi, New Delhi, IndiaThelma, B. K.论文数: 0 引用数: 0 h-index: 0机构: Dr RML Hosp, Dept Psychiat, New Delhi, India Univ Delhi, New Delhi, India
- [39] Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesiaEUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2018, 230 : 200 - 202Suzumori, Nobuhiro论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Div Mol & Clin Genet, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, Japan论文数: 引用数: h-index:机构:Ohtani, Ayano论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, JapanKumagai, Kyoko论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Div Mol & Clin Genet, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, JapanTakeda, Eri论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Div Mol & Clin Genet, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, Japan论文数: 引用数: h-index:机构:Sawada, Yuki论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, JapanInuzuka, Saki论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, JapanIwagaki, Shigenori论文数: 0 引用数: 0 h-index: 0机构: Nagara Med Ctr, Dept Fetal Maternal Med, Gifu, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, JapanTakahashi, Yuichiro论文数: 0 引用数: 0 h-index: 0机构: Nagara Med Ctr, Dept Fetal Maternal Med, Gifu, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Obstet & Gynecol, Nagoya, Aichi, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
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