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- [22] Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosaPLOS ONE, 2018, 13 (12):Birtel, Johannes论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Ophthalmol, Bonn, Germany Univ Bonn, Ctr Rare Dis Bonn ZSEB, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyGliem, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Ophthalmol, Bonn, Germany Univ Bonn, Ctr Rare Dis Bonn ZSEB, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyMangold, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyMueller, Philipp L.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Ophthalmol, Bonn, Germany Univ Bonn, Ctr Rare Dis Bonn ZSEB, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyHolz, Frank G.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Dept Ophthalmol, Bonn, Germany Univ Bonn, Ctr Rare Dis Bonn ZSEB, Bonn, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyNeuhaus, Christine论文数: 0 引用数: 0 h-index: 0机构: Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyLenzner, Steffen论文数: 0 引用数: 0 h-index: 0机构: Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyZahnleiter, Diana论文数: 0 引用数: 0 h-index: 0机构: Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyBetz, Christian论文数: 0 引用数: 0 h-index: 0机构: Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyEisenberger, Tobias论文数: 0 引用数: 0 h-index: 0机构: Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Bonn, Dept Ophthalmol, Bonn, GermanyBolz, Hanno J.论文数: 0 引用数: 0 h-index: 0机构: Bioscientia Ctr Human Genet, Ingelheim, Germany Univ Hosp Cologne, Inst Human Genet, Cologne, Germany Univ Bonn, Dept Ophthalmol, Bonn, Germany论文数: 引用数: h-index:机构:
- [23] Hypertrophic Cardiomyopathy: Genotype-Phenotype Correlation of 14 Autopsy CasesMODERN PATHOLOGY, 2019, 32Morris, Catherine论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USABaudhuin, Linnea论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USABois, Melanie论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USAMaleszewski, Joseph论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USA
- [24] Hypertrophic Cardiomyopathy: Genotype-Phenotype Correlation of 14 Autopsy CasesLABORATORY INVESTIGATION, 2019, 99Morris, Catherine论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USABaudhuin, Linnea论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USABois, Melanie论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USAMaleszewski, Joseph论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Rochester, MN USA Mayo Clin, Rochester, MN USA
- [25] The impact of next generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genesEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 331 - 331Stregapede, F.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyTravaglini, L.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyAiello, C.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyAlesi, V.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyD'Amico, A.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyCiofi, A.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyBruselles, A.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyPizzi, S.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyZanni, G.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyLoddo, S.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyBarresi, S.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyVasco, G.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyTartaglia, M.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyBertini, E.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, ItalyNicita, F.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp, Rome, Italy Bambino Gesu Children Hosp, Rome, Italy
- [26] Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype-phenotype correlation studyEUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING, 2020, 21 (04) : 378 - 386Segura-Rodriguez, Diego论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainJose Bermudez-Jimenez, Francisco论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainCarriel, Victor论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Univ Granada, Fac Med, Dept Histol, Avda Invest 11, Granada 18016, Spain Univ Granada, Fac Med, Tissue Engn Grp, Avda Invest 11, Granada 18016, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainLopez-Fernandez, Silvia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainGonzalez-Molina, Mercedes论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainOyonarte Ramirez, Jose Manuel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainFernandez-Navarro, Laura论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Radiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainDolores Garcia-Roa, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Radiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainCabrerizo, Elisa M.论文数: 0 引用数: 0 h-index: 0机构: Inst Med Legal, Serv Patol Forense, Avda Innovac 1, Granada 18016, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainDurand-Herrera, Daniel论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Univ Granada, Fac Med, Dept Histol, Avda Invest 11, Granada 18016, Spain Univ Granada, Fac Med, Tissue Engn Grp, Avda Invest 11, Granada 18016, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain论文数: 引用数: h-index:机构:Campos, Antonio论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Univ Granada, Fac Med, Dept Histol, Avda Invest 11, Granada 18016, Spain Univ Granada, Fac Med, Tissue Engn Grp, Avda Invest 11, Granada 18016, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainMacias, Rosa论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainAlvarez, Miguel论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainTercedor, Luis论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, SpainJimenez-Jaimez, Juan论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain Inst Invest Biosanitaria Ibs GRANADA, Avda Fuerzas Armadas 2, Granada 18014, Spain Hosp Univ Virgen de las Nieves, Cardiol Dept, Avda Fuerzas Armadas 2, Granada 18014, Spain
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Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Minist Hlth, Dept Endocrinol,Key Lab Endocrinol, Beijing 100730, Peoples R ChinaXing, X.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Minist Hlth, Dept Endocrinol,Key Lab Endocrinol, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Minist Hlth, Dept Endocrinol,Key Lab Endocrinol, Beijing 100730, Peoples R ChinaYu, W.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Radiol, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Minist Hlth, Dept Endocrinol,Key Lab Endocrinol, Beijing 100730, Peoples R ChinaWang, J.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Minist Hlth, Dept Endocrinol,Key Lab Endocrinol, Beijing 100730, Peoples R China BGI Shenzhen, BGI Tianjin, Tianjin Med Lab, Tianjin 300308, Peoples R China BGI Tianjin, Binhai Genom Inst, Tianjin 300308, Peoples R China BGI Shenzhen, Shenzhen 518083, Peoples R China James D Watson Inst Genome Sci, Hangzhou 310058, Zhejiang, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Minist Hlth, Dept Endocrinol,Key Lab Endocrinol, Beijing 100730, Peoples R ChinaSun, J.论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Tianjin Med Lab, Tianjin 300308, Peoples R China BGI Tianjin, Binhai Genom Inst, Tianjin 300308, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Minist Hlth, Dept Endocrinol,Key Lab Endocrinol, Beijing 100730, Peoples R ChinaSong, L.论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Tianjin Med Lab, Tianjin 300308, Peoples R China BGI Tianjin, Binhai Genom Inst, Tianjin 300308, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Minist Hlth, Dept Endocrinol,Key Lab Endocrinol, Beijing 100730, Peoples R ChinaZhu, Y.论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Tianjin Med Lab, Tianjin 300308, Peoples R China 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