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- [1] Exome Sequencing in Monogenic Forms of RicketsINDIAN JOURNAL OF PEDIATRICS, 2023, 90 (12): : 1182 - 1190Jacob, Prince论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaBhavani, Gandham SriLakshmi论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaUdupa, Prajna论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaWang, Zheng论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaHariharan, Sankar V. V.论文数: 0 引用数: 0 h-index: 0机构: SAT Hosp, Govt Med Coll, Dept Pediat, Genet Clin, Thiruvananthapuram, Kerala, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaDelampady, Kishan论文数: 0 引用数: 0 h-index: 0机构: AJ Hosp & Res Ctr, Dept Endocrinol, Mangalore, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaDalal, Ashwin论文数: 0 引用数: 0 h-index: 0机构: Ctr DNA Fingerprinting & Diagnost, Diagnost Div, Hyderabad, Telangana, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaKamath, Nutan论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Pediat, Manipal, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaIkegawa, Shiro论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India RIKEN Ctr Integrat Med Sci, Lab Bone & Joint Dis, Tokyo, Japan Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaShenoy, Rathika D. D.论文数: 0 引用数: 0 h-index: 0机构: Nitte Univ, KS Hegde Med Acad, Dept Pediat, Mangalore, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaHandattu, Koushik论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Pediat, Manipal, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaShah, Hitesh论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Pediat Orthoped, Manipal, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, IndiaGirisha, Katta M. M.论文数: 0 引用数: 0 h-index: 0机构: Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India Manipal Acad Higher Educ, Kasturba Med Coll, Dept Med Genet, Manipal, Karnataka, India
- [2] Exome sequencing in monogenic diabetesDIABETOLOGIA, 2011, 54 : S153 - S153Johansson, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Med, N-5020 Bergen, Norway Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway Univ Bergen, Dept Clin Med, N-5020 Bergen, NorwayIrgens, H. U.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Med, N-5020 Bergen, Norway Univ Bergen, Dept Clin Med, N-5020 Bergen, NorwayChudasama, K. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Med, N-5020 Bergen, Norway Univ Bergen, Dept Clin Med, N-5020 Bergen, NorwayMolnes, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Med, N-5020 Bergen, Norway Univ Bergen, Dept Clin Med, N-5020 Bergen, NorwayKnappskog, P. M.论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway Univ Bergen, Dept Clin Med, N-5020 Bergen, NorwayMolven, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Gade Inst, N-5020 Bergen, Norway Univ Bergen, Dept Clin Med, N-5020 Bergen, NorwayNjolstad, P. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Bergen, Dept Clin Med, N-5020 Bergen, Norway Univ Bergen, Dept Clin Med, N-5020 Bergen, Norway
- [3] Exome sequencing applied to monogenic disordersM S-MEDECINE SCIENCES, 2010, 26 (05): : 452 - 454Criqui, Audrey论文数: 0 引用数: 0 h-index: 0机构: PartnerChip CEA, F-91000 Evry, France PartnerChip CEA, F-91000 Evry, FranceBaulande, Sylvain论文数: 0 引用数: 0 h-index: 0机构: PartnerChip CEA, F-91000 Evry, France PartnerChip CEA, F-91000 Evry, France
- [4] Exome Sequencing in Suspected Monogenic DyslipidemiasCIRCULATION-CARDIOVASCULAR GENETICS, 2015, 8 (02) : 343 - +Stitziel, Nathan O.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USA Washington Univ, Sch Med, Div Stat Genom, St Louis, MO USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAPeloso, Gina M.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAAbifadel, Marianne论文数: 0 引用数: 0 h-index: 0机构: INSERM, U698, Paris, France Univ Paris Diderot, Paris, France Univ St Joseph, Lab Biochim, Fac Pharm & Pole Technol Sante, Beirut, Lebanon Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USACefalu, Angelo B.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist, Palermo, Italy Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAFouchier, Sigrid论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Expt Vasc Med, NL-1105 AZ Amsterdam, Netherlands Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAMotazacker, M. Mahdi论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Expt Vasc Med, NL-1105 AZ Amsterdam, Netherlands Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USATada, Hayato论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USALarach, Daniel B.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Med, Perelman Sch Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAAwan, Zuhier论文数: 0 引用数: 0 h-index: 0机构: King Abdulaziz Univ, Dept Clin Biochem, Jeddah 21413, Saudi Arabia Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAHaller, Jorge F.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Lipid Metab Unit, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Computat & Integrat Biol, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Med, Boston, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAPullinger, Clive R.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA 94143 USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAVarret, Mathilde论文数: 0 引用数: 0 h-index: 0机构: INSERM, U698, Paris, France Univ Paris Diderot, Paris, France Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USARabes, Jean-Pierre论文数: 0 引用数: 0 h-index: 0机构: INSERM, U698, Paris, France Univ Paris Diderot, Paris, France Hop Ambroise Pare, AP HP, Lab Biochim & Genet Mol, Boulogne, France Univ Versailles St Quentin en Yvelines, UFR Med Paris Ile de France Ouest, Guyancourt, France Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USA论文数: 引用数: h-index:机构:Tarugi, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAKawashiri, Masa-aki论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Div Cardiovasc Med, Grad Sch Med, Kanazawa, Ishikawa, Japan Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USANohara, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Lipidol, Grad Sch Med Sci, Kanazawa, Ishikawa, Japan Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAYamagishi, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Div Cardiovasc Med, Grad Sch Med, Kanazawa, Ishikawa, Japan Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USARisman, Marjorie论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Med, Perelman Sch Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USADeo, Rahul论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA 94143 USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USARuel, Isabelle论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ, Canada Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAShendure, Jay论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USANickerson, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAWilson, James G.论文数: 0 引用数: 0 h-index: 0机构: Univ Mississippi, Med Ctr, Dept Physiol & Biophys, Jackson, MS 39216 USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USARich, Stephen S.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAGupta, Namrata论文数: 0 引用数: 0 h-index: 0机构: Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAFarlow, Deborah N.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USANeale, Benjamin M.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USADaly, Mark J.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAKane, John P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Cardiovasc Res Inst, San Francisco, CA 94143 USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAFreeman, Mason W.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Lipid Metab Unit, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Computat & Integrat Biol, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Med, Boston, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAGenest, Jacques论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ, Canada Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USARader, Daniel J.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Med, Perelman Sch Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAMabuchi, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Dept Lipidol, Grad Sch Med Sci, Kanazawa, Ishikawa, Japan Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAKastelein, John J. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAHovingh, G. Kees论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAAverna, Maurizio R.论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Dipartimento Biomed Med Interna & Specialist, Palermo, Italy Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAGabriel, Stacey论文数: 0 引用数: 0 h-index: 0机构: Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USABoileau, Catherine论文数: 0 引用数: 0 h-index: 0机构: INSERM, U698, Paris, France Univ Paris Diderot, Paris, France Hop Ambroise Pare, AP HP, Lab Biochim & Genet Mol, Boulogne, France Univ Versailles St Quentin en Yvelines, UFR Med Paris Ile de France Ouest, Guyancourt, France Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USAKathiresan, Sekar论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Harvard Univ, Sch Med, Dept Med, Boston, MA USA Washington Univ, Sch Med, Div Cardiovasc, Dept Med, St Louis, MO 63110 USA
- [5] Whole Exome Sequencing in Monogenic DyslipidemiasJOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, 2015, 22 (09) : 881 - 885Tada, Hayato论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med, Div Cardiovasc Med, Kanazawa, Ishikawa 9208641, Japan Kanazawa Univ, Grad Sch Med, Div Cardiovasc Med, Kanazawa, Ishikawa 9208641, JapanKawashiri, Masa-ski论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med, Div Cardiovasc Med, Kanazawa, Ishikawa 9208641, Japan Kanazawa Univ, Grad Sch Med, Div Cardiovasc Med, Kanazawa, Ishikawa 9208641, JapanYamagishi, Masakazu论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med, Div Cardiovasc Med, Kanazawa, Ishikawa 9208641, Japan Kanazawa Univ, Grad Sch Med, Div Cardiovasc Med, Kanazawa, Ishikawa 9208641, JapanHayashi, Kenshi论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med, Div Cardiovasc Med, Kanazawa, Ishikawa 9208641, Japan Kanazawa Univ, Grad Sch Med, Div Cardiovasc Med, Kanazawa, Ishikawa 9208641, Japan
- [6] Syndromic and monogenic obesity: Is clinical exome sequencing necessary?HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 581 - 582Nursoy, Hatice论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Div Pediat Endocrinol, Bursa, Turkiye Uludag Univ, Div Pediat Endocrinol, Bursa, TurkiyeDenkboy-Ongen, Yasemin论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Div Pediat Endocrinol, Bursa, Turkiye Uludag Univ, Div Pediat Endocrinol, Bursa, TurkiyeBuhur-Pirimoglu, Meltem论文数: 0 引用数: 0 h-index: 0机构: Gaziantep City Hosp, Div Pediat Endocrinol, Antep, Turkiye Uludag Univ, Div Pediat Endocrinol, Bursa, TurkiyeEren, Erdal论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Div Pediat Endocrinol, Bursa, Turkiye Uludag Univ, Div Pediat Endocrinol, Bursa, Turkiye
- [7] Economic value of exome sequencing for suspected monogenic disordersGENETICS IN MEDICINE, 2020, 22 (11) : 1909 - 1909Ferket, Bart S.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Populat Hlth Sci & Policy, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Populat Hlth Sci & Policy, New York, NY 10029 USAVeenstra, David L.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pharm, Comparat Hlth Outcomes Policy & Econ CHOICE Inst, Seattle, WA 98195 USA Icahn Sch Med Mt Sinai, Dept Populat Hlth Sci & Policy, New York, NY 10029 USA
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Munchen, Inst Neurogenom, D-85764 Munich, Germany Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyWagner, Matias论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, Germany Tech Univ Munich, Inst Human Genet, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyZhao, Chen论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyJochim, Angela论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Klinikum Rechts Isar, Klin & Poliklin Neurol, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyNecpal, Jan论文数: 0 引用数: 0 h-index: 0机构: Zvolen Hosp, Dept Neurol, Zvolen, Slovakia Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyDincer, Yasemin论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Lehrstuhl Sozialpadiatrie, Munich, Germany Zentrum Humangenet & Lab Diagnost, Martinsried, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyVill, Katharina论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dr von Haunersches Kinderspital, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyDistelmaier, Felix论文数: 0 引用数: 0 h-index: 0机构: Heinrich Heine Univ, Univ Childrens Hosp, Dept Gen Pediat, Dusseldorf, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyStoklosa, Malgorzata论文数: 0 引用数: 0 h-index: 0机构: Clin Hosp 2, Dept Neonatol, Rzeszow, Poland Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, Germany论文数: 引用数: h-index:机构:Grunwald, Stephan论文数: 0 引用数: 0 h-index: 0机构: Max Delbruck Ctr Mol Med, Crystallog, Berlin, Germany Free Univ Berlin, Inst Chem & Biochem, Berlin, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyBock-Bierbaum, Tobias论文数: 0 引用数: 0 h-index: 0机构: Max Delbruck Ctr Mol Med, Crystallog, Berlin, Germany Free Univ Berlin, Inst Chem & Biochem, Berlin, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyFecikova, Anna论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Neurol, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyHavrankova, Petra论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Neurol, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyRoth, Jan论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Neurol, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyPrihodova, Iva论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Neurol, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyAdamovicova, Miriam论文数: 0 引用数: 0 h-index: 0机构: Thomayer Hosp, Dept Paediat Neurol, Prague, Czech Republic Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyUlmanova, Olga论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Dept Neurol, Prague, Czech Republic Gen Univ Hosp Prague, Prague, Czech Republic Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyBechyne, Karel论文数: 0 引用数: 0 h-index: 0机构: Hosp Pisek, Dept Neurol, Pisek, Czech Republic Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyDanhofer, Pavlina论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ Brno, Dept Child Neurol, Fac Med, Brno, Czech Republic Univ Hosp, Brno, Czech Republic Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyVesely, Branislav论文数: 0 引用数: 0 h-index: 0机构: Constantine Philosopher Univ, Fac Hosp, Dept Neurol, Nitra, Slovakia Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyHan, Vladimir论文数: 0 引用数: 0 h-index: 0机构: Pavol Jozef Safarik Univ, Dept Neurol, Kosice, Slovakia Univ Hosp Louis Pasteur, Dept Neurol, Kosice, Slovakia Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyPavelekova, Petra论文数: 0 引用数: 0 h-index: 0机构: Pavol Jozef Safarik Univ, Dept Neurol, Kosice, Slovakia Univ Hosp Louis Pasteur, Dept Neurol, Kosice, Slovakia Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyGdovinova, Zuzana论文数: 0 引用数: 0 h-index: 0机构: Pavol Jozef Safarik Univ, Dept Neurol, Kosice, Slovakia Univ Hosp Louis Pasteur, Dept Neurol, Kosice, Slovakia Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyMantel, Tobias论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Klinikum Rechts Isar, Klin & Poliklin Neurol, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyMeindl, Tobias论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Klinikum Rechts Isar, Klin & Poliklin Neurol, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanySitzberger, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dr von Haunersches Kinderspital, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanySchroeder, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dr von Haunersches Kinderspital, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyBlaschek, Astrid论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dr von Haunersches Kinderspital, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyRoser, Timo论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dr von Haunersches Kinderspital, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyBonfert, Michaefa, V论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Dr von Haunersches Kinderspital, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyHaberlandt, Edda论文数: 0 引用数: 0 h-index: 0机构: Krankenhaus Stadt Dornbirn, Clin Pediat, Dornbirn, Austria Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, Germany论文数: 引用数: h-index:机构:Leineweber, Birgit论文数: 0 引用数: 0 h-index: 0机构: Klinikum Dritter Orden, Sozialpadiatr Zentrum, Munich, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyBerweck, Steffen论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Munich, Germany Schoen Klin Vogtareuth, Ctr Epilepsy Children & Adolescents, Hosp Neuropediat & Neurol Rehabil, Vogtareuth, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyHerberhold, Thomas论文数: 0 引用数: 0 h-index: 0机构: Schoen Klin Vogtareuth, Ctr Epilepsy Children & Adolescents, Hosp Neuropediat & Neurol Rehabil, Vogtareuth, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyLangguth, Berthold论文数: 0 引用数: 0 h-index: 0机构: Univ Regensburg, Dept Psychiat & Psychotherapy, Regensburg, Germany Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanySvantnerova, Jana论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, Slovakia Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyMinar, Michal论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Univ Hosp Bratislava, Fac Med, Dept Neurol 2, Bratislava, Slovakia Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyRamos-Rivera, Gonzalo Alonso论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Childrens Dis, Dept Pediat Neurol, Bratislava, Slovakia Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyWojcik, Monica H.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Pediat, Div Newborn Med & Genet, Boston, MA USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyPajusalu, Sander论文数: 0 引用数: 0 h-index: 0机构: Tartu Univ Hosp, Dept Clin Genet, Tartu, Estonia Univ Tartu, Dept Clin Genet, Tartu, Estonia Yale Sch Med, Dept Genet, New Haven, CT USA Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, Germany论文数: 引用数: h-index:机构:Schatz, Ulrich A.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Med Univ Innsbruck, Inst Human Genet, Innsbruck, Austria Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyPoelsler, Laura论文数: 0 引用数: 0 h-index: 0机构: Med Univ Innsbruck, Inst Human Genet, Innsbruck, Austria Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, GermanyMilenkovic, Ivan论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Dept Neurol, Vienna, Austria Helmholtz Zentrum Munchen, Inst Neurogenom, D-85764 Munich, Germany
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- [10] Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome SequencingPLOS ONE, 2013, 8 (02):Grillo, Elisa论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, I-53100 Siena, Italy Univ Siena, I-53100 Siena, ItalyLo Rizzo, Caterina论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, I-53100 Siena, Italy Azienda Osped Univ Senese, Siena, Italy Univ Siena, I-53100 Siena, ItalyBianciardi, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, I-53100 Siena, Italy Univ Siena, I-53100 Siena, ItalyBizzarri, Veronica论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, I-53100 Siena, Italy Azienda Osped Univ Senese, Siena, Italy Univ Siena, I-53100 Siena, ItalyBaldassarri, Margherita论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, I-53100 Siena, Italy Univ Siena, I-53100 Siena, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:De Felice, Claudio论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ Senese AOUS Siena, Univ Hosp, Neonatal Intens Care Unit, Siena, Italy Univ Siena, I-53100 Siena, ItalySignorini, Cinzia论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol & Dev Med, I-53100 Siena, Italy Univ Siena, I-53100 Siena, Italy论文数: 引用数: h-index:机构:Pecorelli, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol & Dev Med, I-53100 Siena, Italy AOUS, Univ Hosp, Child Neuropsychiat Unit, Siena, Italy Univ Siena, I-53100 Siena, ItalyCiccoli, Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol & Dev Med, I-53100 Siena, Italy Univ Siena, I-53100 Siena, ItalyMencarelli, Maria Antonietta论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, I-53100 Siena, Italy Azienda Osped Univ Senese, Siena, Italy Univ Siena, I-53100 Siena, ItalyHayek, Joussef论文数: 0 引用数: 0 h-index: 0机构: AOUS, Univ Hosp, Child Neuropsychiat Unit, Siena, Italy Univ Siena, I-53100 Siena, ItalyMeloni, Ilaria论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, I-53100 Siena, Italy Univ Siena, I-53100 Siena, ItalyAriani, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, I-53100 Siena, Italy Univ Siena, I-53100 Siena, ItalyMari, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, I-53100 Siena, Italy Azienda Osped Univ Senese, Siena, Italy Univ Siena, I-53100 Siena, Italy论文数: 引用数: h-index:机构: