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- [42] A transgenic mouse model of autosomal cutis laxaMATRIX BIOLOGY, 2006, 25 : S65 - S65Hu, Q.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USAChoi, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USADavis, E. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USASzabo, Z.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USAShifren, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USAKnutsen, R. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USAPierce, R. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USAShipley, M. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USAMecham, R. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USAUrban, Z.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, St Louis, MO USA
- [43] Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in FBLN4AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (05) : 1148 - 1153Sawyer, Sarah L.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Dept Med Genet, Ottawa, ON, Canada Univ Ottawa, Dept Med Genet, Ottawa, ON, CanadaDicke, Frank论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Div Cardiol, Dept Pediat, Calgary, AB T2N 1N4, Canada Univ Ottawa, Dept Med Genet, Ottawa, ON, CanadaKirton, Adam论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Div Neurol, Dept Pediat, Calgary, AB T2N 1N4, Canada Univ Ottawa, Dept Med Genet, Ottawa, ON, CanadaRajapkse, Thilinie论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Div Neurol, Dept Pediat, Calgary, AB T2N 1N4, Canada Univ Ottawa, Dept Med Genet, Ottawa, ON, CanadaRebeyka, Ivan M.论文数: 0 引用数: 0 h-index: 0机构: Univ Alberta, Dept Surg, Edmonton, AB, Canada Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Ottawa, Dept Med Genet, Ottawa, ON, CanadaMcInnes, Brenda论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Univ Ottawa, Dept Med Genet, Ottawa, ON, CanadaParboosingh, Jillian S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Alberta Childrens Prov Gen Hosp, Res Inst Child & Maternal Hlth, Calgary, AB T3B 6A8, Canada Univ Ottawa, Dept Med Genet, Ottawa, ON, CanadaBernier, Francois P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Dept Med Genet, Calgary, AB, Canada Alberta Childrens Prov Gen Hosp, Res Inst Child & Maternal Hlth, Calgary, AB T3B 6A8, Canada Univ Ottawa, Dept Med Genet, Ottawa, ON, Canada
- [44] Further characterization of ATP6V0A2-related autosomal recessive cutis laxaHUMAN GENETICS, 2012, 131 (11) : 1761 - 1773Fischer, Bjoern论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyDimopoulou, Aikaterini论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyEgerer, Johannes论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyGardeitchik, Thatjana论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6525 ED Nijmegen, Netherlands Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyKidd, Alexa论文数: 0 引用数: 0 h-index: 0机构: Wellington Hosp, Cent Reg Genet Serv, Wellington, New Zealand Wellington Hosp, So Reg Genet Serv, Wellington, New Zealand Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyJost, Dominik论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyKayserili, Hulya论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyAlanay, Yasemin论文数: 0 引用数: 0 h-index: 0机构: Acibadem Univ, Dept Child Hlth & Dis, Istanbul, Turkey Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyTantcheva-Poor, Iliana论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Dept Dermatol, Cologne, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyMangold, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyDaumer-Haas, Cornelia论文数: 0 引用数: 0 h-index: 0机构: Prenatal Med Munich, Munich, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyPhadke, Shubha论文数: 0 引用数: 0 h-index: 0机构: Sanjay Gandhi Postgrad Inst Med Sci, Dept Med Genet, Lucknow, Uttar Pradesh, India Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyPeirano, Reto I.论文数: 0 引用数: 0 h-index: 0机构: Beiersdorf AG, R&D, Skin Res Ctr, D-20253 Hamburg, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyHeusel, Julia论文数: 0 引用数: 0 h-index: 0机构: Beiersdorf AG, R&D, Skin Res Ctr, D-20253 Hamburg, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyDesphande, Charu论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, Dept Clin Genet, London SE1 9RT, England Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyGupta, Neerja论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, New Delhi, India Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyNanda, Arti论文数: 0 引用数: 0 h-index: 0机构: Al Sabah Hosp, Asad Al Hamad Dermatol Ctr, Pediat Dermatol Unit, Kuwait, Kuwait Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyFelix, Emma论文数: 0 引用数: 0 h-index: 0机构: Wellington Hosp, Cent Reg Genet Serv, Wellington, New Zealand Wellington Hosp, So Reg Genet Serv, Wellington, New Zealand Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyBerry-Kravis, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Rush Univ, Med Ctr, Dept Pediat Neurol Sci & Biochem, Chicago, IL 60612 USA Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyKabra, Madhulika论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Pediat, New Delhi, India Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyWevers, Ron A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Lab Genet Endocrine & Metab Dis, NL-6525 ED Nijmegen, Netherlands Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germanyvan Maldergem, Lionel论文数: 0 引用数: 0 h-index: 0机构: Univ Franche Comte, Ctr Hosp Univ, Ctr Genet Humaine, Cutis Laxa,Debre Type Study Grp, F-25030 Besancon, France Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyMundlos, Stefan论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Charite, Berlin Brandenburg Ctr Regenerat Therapies, D-13353 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyMorava, Eva论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6525 ED Nijmegen, Netherlands Charite, Inst Med Genet & Humangenet, D-13353 Berlin, GermanyKornak, Uwe论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany Max Planck Inst Mol Genet, FG Dev & Dis, D-14195 Berlin, Germany Charite, Inst Med Genet & Humangenet, D-13353 Berlin, Germany
- [45] Further characterization of ATP6V0A2-related autosomal recessive cutis laxaHuman Genetics, 2012, 131 : 1761 - 1773Björn Fischer论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikAikaterini Dimopoulou论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikJohannes Egerer论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikThatjana Gardeitchik论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikAlexa Kidd论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikDominik Jost论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikHülya Kayserili论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikYasemin Alanay论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikIliana Tantcheva-Poor论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikElisabeth Mangold论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikCornelia Daumer-Haas论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikShubha Phadke论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikReto I. Peirano论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikJulia Heusel论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikCharu Desphande论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikNeerja Gupta论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikArti Nanda论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikEmma Felix论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikElisabeth Berry-Kravis论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikMadhulika Kabra论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikRon A. Wevers论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikLionel van Maldergem论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikStefan Mundlos论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikEva Morava论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und HumangenetikUwe Kornak论文数: 0 引用数: 0 h-index: 0机构: Charité-Universitaetsmedizin Berlin,Institut fuer Medizinische Genetik und Humangenetik
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