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- [41] Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disordersHuman Genetics, 2020, 139 : 1381 - 1390Frederic Tran Mau-Them论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéSebastien Moutton论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéCaroline Racine论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéAntonio Vitobello论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéAnge-Line Bruel论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéSophie Nambot论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéSteven A. Kushner论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéFemke M. S. de Vrij论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéDaphné Lehalle论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéNolwenn Jean-Marçais论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéFrançois Lecoquierre论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéJulian Delanne论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéJulien Thevenon论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéCharlotte Poe论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéThibaut Jouan论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéMartin Chevarin论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéDavid Geneviève论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéMarjolaine Willems论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéChristine Coubes论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéNada Houcinat论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéAlice Masurel-Paulet论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéAnne-Laure Mosca-Boidron论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéEmilie Tisserant论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéPatrick Callier论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéArthur Sorlin论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéYannis Duffourd论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéLaurence Faivre论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéChristophe Philippe论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de SantéChristel Thauvin-Robinet论文数: 0 引用数: 0 h-index: 0机构: INSERM-Université de Bourgogne UMR1231 GAD,UFR Des Sciences de Santé
- [42] WHOLE EXOME SEQUENCING AS A DIAGNOSTIC TOOL FOR COMPLEX NEUROLOGICAL DISORDERSVALUE IN HEALTH, 2014, 17 (07) : A396 - A396Frederix, G. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Utrecht, Netherlands Univ Utrecht, Utrecht, NetherlandsMonroe, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Med Ctr, Utrecht, Netherlands Univ Utrecht, Utrecht, NetherlandsHovels, A. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Utrecht, Netherlands Univ Utrecht, Utrecht, Netherlandsvan Haaften, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Utrecht, Med Ctr, Utrecht, Netherlands Univ Utrecht, Utrecht, Netherlands
- [43] The diagnostic utility of exome sequencing in Joubert syndrome and related disordersJournal of Human Genetics, 2013, 58 : 113 - 115Yoshinori Tsurusaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsYasuko Kobayashi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMasataka Hisano论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsShuichi Ito论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHiroshi Doi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMitsuko Nakashima论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHirotomo Saitsu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNoriko Miyake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human Genetics
- [44] Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disordersEUROPEAN JOURNAL OF NEUROLOGY, 2013, 20 (03) : 486 - 492Hammer, M. B.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, Tunisia NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, TunisiaEleuch-Fayache, G.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, Tunisia Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, TunisiaGibbs, J. R.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA UCL, Reta Lilla Weston Labs, Inst Neurol, London, England UCL, Dept Mol Neurosci, Inst Neurol, London, England Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, TunisiaArepalli, S. K.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, TunisiaChong, S. B.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, TunisiaSassi, C.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA UCL, Reta Lilla Weston Labs, Inst Neurol, London, England UCL, Dept Mol Neurosci, Inst Neurol, London, England Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, TunisiaBouhlal, Y.论文数: 0 引用数: 0 h-index: 0机构: UCSF, Inst Human Genet, San Francisco, CA USA Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, TunisiaHentati, F.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, Tunisia Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, TunisiaAmouri, R.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, Tunisia Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, TunisiaSingleton, A. B.论文数: 0 引用数: 0 h-index: 0机构: NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA Natl Inst Neurol, Dept Mol Neurobiol & Neuropathol, Tunis, Tunisia
- [45] Diagnostic Challenges of Neuromuscular Disorders after Whole Exome SequencingJOURNAL OF NEUROMUSCULAR DISEASES, 2023, 10 (04) : 667 - 684Chen, Pin-Shiuan论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanChao, Chi-Chao论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanTsai, Li-Kai论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanHuang, Hsin-Yi论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pathol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanChien, Yin-Hsiu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, 8 Chung Shan South Rd, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanHuang, Pei-Hsin论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Pathol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanHwu, Wuh-Liang论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, 8 Chung Shan South Rd, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanHsieh, Sung-Tsang论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, Taiwan Natl Taiwan Univ, Coll Med, Dept Anat & Cell Biol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanLee, Ni-Chung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, 8 Chung Shan South Rd, Taipei 10041, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanHsueh, Hsueh-Wen论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, Taiwan Natl Taiwan Univ, Coll Med, Dept Anat & Cell Biol, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, TaiwanYang, Chih-Chao论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, Taiwan Natl Taiwan Univ Hosp, Dept Neurol, 7 Chung Shan South Rd, Taipei 10002, Taiwan
- [46] The diagnostic utility of exome sequencing in Joubert syndrome and related disordersJOURNAL OF HUMAN GENETICS, 2013, 58 (02) : 113 - 115Tsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanKobayashi, Yasuko论文数: 0 引用数: 0 h-index: 0机构: Gunma Univ, Grad Sch Med, Dept Pediat, Maebashi, Gunma 371, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanHisano, Masataka论文数: 0 引用数: 0 h-index: 0机构: Chiba Childrens Hosp, Dept Nephrol, Chiba, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanIto, Shuichi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Tokyo, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanDoi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Matsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa 2360004, Japan
- [47] Scientific yield of clinical exome sequencing of neurodevelopmental disordersEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 244 - 245Buettner, B.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyMartin, S.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyKrey, I.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyLe Duc, D.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyBartolomaeus, T.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyConstanze, H.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyHuhle, D.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, GermanyKiess, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Leipzig, Hosp Children & Adolescents, Leipzig, Germany Inst Human Genet, Leipzig, GermanyMerkenschlager, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Leipzig, Hosp Children & Adolescents, Div Neuropediat, Leipzig, Germany Inst Human Genet, Leipzig, GermanyBernhard, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Leipzig, Hosp Children & Adolescents, Leipzig, Germany Inst Human Genet, Leipzig, GermanyPfaeffle, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Leipzig, Hosp Children & Adolescents, Leipzig, Germany Inst Human Genet, Leipzig, GermanyHornemann, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Leipzig, Hosp Children & Adolescents, Leipzig, Germany Inst Human Genet, Leipzig, GermanyWieczorek, D.论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ Dusseldorf, Inst Human Genet & Anthropol, Dusseldorf, Germany Inst Human Genet, Leipzig, GermanyHoffjan, S.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ, Dept Human Genet, Bochum, Germany Inst Human Genet, Leipzig, GermanyHellenbroich, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Inst Human Genet, Leipzig, GermanyKuechler, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Essen, Inst Human Genet, Essen, Germany Inst Human Genet, Leipzig, GermanyElgizouli, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Essen, Inst Human Genet, Essen, Germany Inst Human Genet, Leipzig, GermanySyrbe, S.论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ Hosp, Ctr Paediat & Adolescent Med, Div Neuropaediat & Metab Med, Heidelberg, Germany Inst Human Genet, Leipzig, GermanySchlump, J. U.论文数: 0 引用数: 0 h-index: 0机构: Witten Herdecke Univ, EKO Childrens Hosp, Oberhausen, Germany Inst Human Genet, Leipzig, GermanySchumacher, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany Univ Hosp Bonn, Bonn, Germany Inst Human Genet, Leipzig, GermanyRolfs, A.论文数: 0 引用数: 0 h-index: 0机构: Centogene AG, Rostock, Germany Inst Human Genet, Leipzig, GermanyBiskup, S.论文数: 0 引用数: 0 h-index: 0机构: CeGaT GmbH, Ctr Genom & Transcript, Tubingen, Germany Inst Human Genet, Leipzig, Germany论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Schmitz, Y.论文数: 0 引用数: 0 h-index: 0机构: Limbus Med Technol GmbH, Rostock, Germany Inst Human Genet, Leipzig, GermanyLeye, S.论文数: 0 引用数: 0 h-index: 0机构: Limbus Med Technol GmbH, Rostock, Germany Inst Human Genet, Leipzig, GermanyEwald, R.论文数: 0 引用数: 0 h-index: 0机构: Limbus Med Technol GmbH, Rostock, Germany Inst Human Genet, Leipzig, GermanySchanze, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Inst Human Genet, Leipzig, GermanyZenker, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Inst Human Genet, Leipzig, GermanyMuschke, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Inst Human Genet, Leipzig, GermanyLiesfeld, B.论文数: 0 引用数: 0 h-index: 0机构: Limbus Med Technol GmbH, Rostock, Germany Inst Human Genet, Leipzig, GermanyPolster, T.论文数: 0 引用数: 0 h-index: 0机构: Hosp Mara GmbH, Bethel Epilepsy Ctr, Bielefeld, Germany Inst Human Genet, Leipzig, GermanyMitter, D.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyPlatzer, K.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyHentschel, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyLemke, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, GermanyJamra, R.论文数: 0 引用数: 0 h-index: 0机构: Inst Human Genet, Leipzig, Germany Inst Human Genet, Leipzig, Germany
- [48] Implementation of Exome Sequencing in Clinical Practice for Neurological DisordersGENES, 2023, 14 (04)Isabel Alvarez-Mora, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, Spain CIBER Rare Dis CIBERER, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainRodriguez-Revenga, Laia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, Spain CIBER Rare Dis CIBERER, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainJodar, Meritxell论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, Spain Univ Barcelona, Fac Med, Dept Biomed Sci, Mol Biol Reprod & Dev Res Grp, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainPotrony, Miriam论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, Spain CIBER Rare Dis CIBERER, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainSanchez, Aurora论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, Spain CIBER Rare Dis CIBERER, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainBadenas, Celia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, Spain CIBER Rare Dis CIBERER, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainOriola, Josep论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainVillanueva-Canas, Jose Luis论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Mol Biol CORE CDB, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainMunoz, Esteban论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Hosp Clin Univ Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv,IDIBAPS,ERN RND,Inst Clin Neurociencie, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainValldeoriola, Francesc论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Hosp Clin Univ Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv,IDIBAPS,ERN RND,Inst Clin Neurociencie, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainCamara, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Hosp Clin Univ Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv,IDIBAPS,ERN RND,Inst Clin Neurociencie, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainCompta, Yaroslau论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Hosp Clin Univ Barcelona, Parkinsons Dis & Movement Disorders Unit, Neurol Serv,IDIBAPS,ERN RND,Inst Clin Neurociencie, Barcelona 08036, Spain Hosp Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, SpainCarreno, Mar论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Dept Neurol, Epilepsy Unit, 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Clin Barcelona, IDIBAPS Inst Invest Biomed August Pi Sunyer 1, Biochem & Mol Genet Dept, Barcelona 08036, Spain
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