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- [31] Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple MalformationsAMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (01) : 106 - 111Boissel, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceReish, Orit论文数: 0 引用数: 0 h-index: 0机构: Assaf Harofeh Med Ctr, Dept Med Genet, IL-70300 Zerifin, Israel Tel Aviv Univ, Sackler Sch Med, IL-70300 Zerifin, Israel Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceProulx, Karine论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Inst Metab Sci, Cambridge CB2 0QQ, England Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceKawagoe-Takaki, Hiroko论文数: 0 引用数: 0 h-index: 0机构: Imperial Canc Res Fund, Clare Hall Labs, Canc Res UK London Res Inst, S Mimms EN6 3LD, Herts, England Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceSedgwick, Barbara论文数: 0 引用数: 0 h-index: 0机构: Imperial Canc Res Fund, Clare Hall Labs, Canc Res UK London Res Inst, S Mimms EN6 3LD, Herts, England Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceYeo, Giles S. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Inst Metab Sci, Cambridge CB2 0QQ, England Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceMeyre, David论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, CNRS, Inst Biol 8090, F-59019 Lille, France Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceGolzio, Christelle论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceMolinari, Florence论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceKadhom, Noman论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceEtchevers, Heather C.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceSaudek, Vladimir论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Inst Metab Sci, Cambridge CB2 0QQ, England Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceFarooqi, I. Sadaf论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Inst Metab Sci, Cambridge CB2 0QQ, England Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceFroguel, Philippe论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, CNRS, Inst Biol 8090, F-59019 Lille, France Univ London Imperial Coll Sci Technol & Med, Hammersmith Hosp, Sect Genom Med, London W12 0NN, England Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceLindahl, Tomas论文数: 0 引用数: 0 h-index: 0机构: Imperial Canc Res Fund, Clare Hall Labs, Canc Res UK London Res Inst, S Mimms EN6 3LD, Herts, England Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceO'Rahilly, Stephen论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Inst Metab Sci, Cambridge CB2 0QQ, England Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, FranceMunnich, Arnold论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, Dept Genet, F-75015 Paris, France Univ Paris 05, Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France论文数: 引用数: h-index:机构:
- [32] A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous diseaseNATURE COMMUNICATIONS, 2018, 9Arnadottir, Gudny A.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandNorddahl, Gudmundur L.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandGudmundsdottir, Steinunn论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandAgustsdottir, Arna B.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandSigurdsson, Snaevar论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandJensson, Brynjar O.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandBjarnadottir, Kristbjorg论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandTheodors, Fannar论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandBenonisdottir, Stefania论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandIvarsdottir, Erna V.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandOddsson, Asmundur论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandKristjansson, Ragnar P.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandSulem, Gerald论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandAlexandersson, Kristjan F.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandJuliusdottir, Thorhildur论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandGudmundsson, Kjartan R.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandSaemundsdottir, Jona论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandJonasdottir, Adalbjorg论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandJonasdottir, Aslaug论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandSigurdsson, Asgeir论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandManzanillo, Paolo论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandGudjonsson, Sigurjon A.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandThorisson, Gudmundur A.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandMagnusson, Olafur Th.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandMasson, Gisli论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandOrvar, Kjartan B.论文数: 0 引用数: 0 h-index: 0机构: Landspitali Univ Hosp, Dept Internal Med, Reykjavik, Iceland Glaesibae, Med Ctr, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandHolm, Hilma论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandBjornsson, Sigurdur论文数: 0 引用数: 0 h-index: 0机构: Landspitali Univ Hosp, Dept Internal Med, Reykjavik, Iceland Glaesibae, Med Ctr, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandArngrimsson, Reynir论文数: 0 引用数: 0 h-index: 0机构: Landspitali Univ Hosp, Dept Genet & Mol Med, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandGudbjartsson, Daniel F.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandThorsteinsdottir, Unnur论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandJonsdottir, Ingileif论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandHaraldsson, Asgeir论文数: 0 引用数: 0 h-index: 0机构: Univ Iceland, Fac Med, Reykjavik, Iceland Childrens Hosp Iceland, Landspitali Univ Hosp, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandSulem, Patrick论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, IcelandStefansson, Kari论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, deCODE Genet, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland Amgen Inc, deCODE Genet, Reykjavik, Iceland
- [33] A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous diseaseNature Communications, 9Gudny A. Arnadottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesGudmundur L. Norddahl论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesSteinunn Gudmundsdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesArna B. Agustsdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesSnaevar Sigurdsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesBrynjar O. Jensson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesKristbjorg Bjarnadottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesFannar Theodors论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesStefania Benonisdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesErna V. Ivarsdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesAsmundur Oddsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesRagnar P. Kristjansson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesGerald Sulem论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesKristjan F. Alexandersson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesThorhildur Juliusdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesKjartan R. Gudmundsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesJona Saemundsdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesAdalbjorg Jonasdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesAslaug Jonasdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesAsgeir Sigurdsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesPaolo Manzanillo论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesSigurjon A. Gudjonsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesGudmundur A. Thorisson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesOlafur Th. Magnusson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesGisli Masson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesKjartan B. Orvar论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesHilma Holm论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesSigurdur Bjornsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesReynir Arngrimsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesDaniel F. Gudbjartsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesUnnur Thorsteinsdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesIngileif Jonsdottir论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesAsgeir Haraldsson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesPatrick Sulem论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural SciencesKari Stefansson论文数: 0 引用数: 0 h-index: 0机构: deCODE Genetics/Amgen,School of Engineering and Natural Sciences
- [34] PyMut: A web tool for overlapping gene loss-of-function mutation designIEEE/ACM Transactions on Computational Biology and Bioinformatics, 2015, PP (99)Liu, Ke论文数: 0 引用数: 0 h-index: 0机构: MOE Key Laboratory of Bioinformatics, State Key Laboratory of Biomembraneand Membrane Biotechnology, School of Life Sciences, Tsinghua University, Beijing 100084, China MOE Key Laboratory of Bioinformatics, State Key Laboratory of Biomembraneand Membrane Biotechnology, School of Life Sciences, Tsinghua University, Beijing 100084, ChinaHou, Sha论文数: 0 引用数: 0 h-index: 0机构: MOE Key Laboratory of Bioinformatics, State Key Laboratory of Biomembraneand Membrane Biotechnology, School of Life Sciences, Tsinghua University, Beijing 100084, China MOE Key Laboratory of Bioinformatics, State Key Laboratory of Biomembraneand Membrane Biotechnology, School of Life Sciences, Tsinghua University, Beijing 100084, ChinaDai, Junbiao论文数: 0 引用数: 0 h-index: 0机构: MOE Key Laboratory of Bioinformatics, State Key Laboratory of Biomembraneand Membrane Biotechnology, School of Life Sciences, Tsinghua University, Beijing 100084, China MOE Key Laboratory of Bioinformatics, State Key Laboratory of Biomembraneand Membrane Biotechnology, School of Life Sciences, Tsinghua University, Beijing 100084, ChinaSun, Zhirong论文数: 0 引用数: 0 h-index: 0机构: MOE Key Laboratory of Bioinformatics, State Key Laboratory of Biomembraneand Membrane Biotechnology, School of Life Sciences, Tsinghua University, Beijing 100084, China MOE Key Laboratory of Bioinformatics, State Key Laboratory of Biomembraneand Membrane Biotechnology, School of Life Sciences, Tsinghua University, Beijing 100084, China
- [35] PyMut: A Web Tool for Overlapping Gene Loss-of-Function Mutation DesignIEEE-ACM TRANSACTIONS ON COMPUTATIONAL BIOLOGY AND BIOINFORMATICS, 2018, 15 (04) : 1107 - 1110Liu, Ke论文数: 0 引用数: 0 h-index: 0机构: Tsinghua Univ, Sch Life Sci, MOE Key Lab Bioinformat, State Key Lab Biomembrane & Membrane Biotechnol, Beijing 100084, Peoples R China Tsinghua Univ, Sch Life Sci, MOE Key Lab Bioinformat, State Key Lab Biomembrane & Membrane Biotechnol, Beijing 100084, Peoples R ChinaHou, Sha论文数: 0 引用数: 0 h-index: 0机构: Tsinghua Univ, Sch Life Sci, MOE Key Lab Bioinformat, State Key Lab Biomembrane & Membrane Biotechnol, Beijing 100084, Peoples R China Tsinghua Univ, Sch Life Sci, MOE Key Lab Bioinformat, State Key Lab Biomembrane & Membrane Biotechnol, Beijing 100084, Peoples R ChinaDai, Junbiao论文数: 0 引用数: 0 h-index: 0机构: Tsinghua Univ, Sch Life Sci, MOE Key Lab Bioinformat, State Key Lab Biomembrane & Membrane Biotechnol, Beijing 100084, Peoples R China Tsinghua Univ, Sch Life Sci, MOE Key Lab Bioinformat, State Key Lab Biomembrane & Membrane Biotechnol, Beijing 100084, Peoples R ChinaSun, Zhirong论文数: 0 引用数: 0 h-index: 0机构: Tsinghua Univ, Sch Life Sci, MOE Key Lab Bioinformat, State Key Lab Biomembrane & Membrane Biotechnol, Beijing 100084, Peoples R China Tsinghua Univ, Sch Life Sci, MOE Key Lab Bioinformat, State Key Lab Biomembrane & Membrane Biotechnol, Beijing 100084, Peoples R China
- [36] The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor geneJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2001, 117 (01) : 156 - 158Jiménez-Cervantes, C论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Sch Med, Dept Biochem & Mol Biol, E-30100 Murcia, SpainOlivares, C论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Sch Med, Dept Biochem & Mol Biol, E-30100 Murcia, SpainGonzález, P论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Sch Med, Dept Biochem & Mol Biol, E-30100 Murcia, SpainMorandini, R论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Sch Med, Dept Biochem & Mol Biol, E-30100 Murcia, SpainGhanem, G论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Sch Med, Dept Biochem & Mol Biol, E-30100 Murcia, SpainGarcía-Borrón, JC论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Sch Med, Dept Biochem & Mol Biol, E-30100 Murcia, Spain
- [37] Loss-of-function mutation in TSGA10 causes acephalic spermatozoa phenotype in humanMOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (07):Ye, Yuanyuan论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaWei, Xiaoli论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Sch Pharmaceut Sci, Xiamen, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaSha, Yanwei论文数: 0 引用数: 0 h-index: 0机构: Xiamen Matern & Child Care Hosp, Dept Reprod Med, Xiamen, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaLi, Na论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Intens Care Unit, Xiamen Humanity Hosp, Xiamen, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaYan, Xiaohong论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaCheng, Ling论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaQiao, Duanrui论文数: 0 引用数: 0 h-index: 0机构: Second Hosp Jilin Univ, Dept Gynecol, Changchun, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaZhou, Weidong论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaWu, Rongfeng论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaLiu, Qiaobin论文数: 0 引用数: 0 h-index: 0机构: 174th Hosp Peoples Liberat Army, Ctr Reprod Med, Xiamen, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R ChinaLi, Youzhu论文数: 0 引用数: 0 h-index: 0机构: Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R China Xiamen Univ, Reprod Med Ctr, Affiliated Hosp 1, 6 Guchengxi Rd, Xiamen 361005, Peoples R China
- [38] Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephalyDEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2016, 58 (12): : 1317 - 1322Alwadei, Ali H.论文数: 0 引用数: 0 h-index: 0机构: King Fahad Med City, Pediat Neurol Dept, Natl Neurosci Inst, POB 59046, Riyadh 11525, Saudi Arabia King Fahad Med City, Pediat Neurol Dept, Natl Neurosci Inst, POB 59046, Riyadh 11525, Saudi ArabiaBenini, Ruba论文数: 0 引用数: 0 h-index: 0机构: Montreal Childrens Hosp, Div Pediat Neurol, Montreal, PQ, Canada King Fahad Med City, Pediat Neurol Dept, Natl Neurosci Inst, POB 59046, Riyadh 11525, Saudi ArabiaMahmoud, Adel论文数: 0 引用数: 0 h-index: 0机构: King Fahad Med City, Pediat Neurol Dept, Natl Neurosci Inst, POB 59046, Riyadh 11525, Saudi Arabia King Fahad Med City, Pediat Neurol Dept, Natl Neurosci Inst, POB 59046, Riyadh 11525, Saudi ArabiaAlasmari, Ali论文数: 0 引用数: 0 h-index: 0机构: King Fahad Med City, Specialized Childrens Hosp, Div Med Genet, Riyadh, Saudi Arabia King Fahad Med City, Pediat Neurol Dept, Natl Neurosci Inst, POB 59046, Riyadh 11525, Saudi ArabiaKamsteeg, Erik-Jan论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Med Genet, Genome Diagnost Nijmegen, Nijmegen, Netherlands King Fahad Med City, Pediat Neurol Dept, Natl Neurosci Inst, POB 59046, Riyadh 11525, Saudi ArabiaAlfadhel, Majid论文数: 0 引用数: 0 h-index: 0机构: King Saud bin Abdulaziz Univ Hlth Sci, King Abdulaziz Med City, Dept Pediat, Div Genet, Riyadh, Saudi Arabia King Fahad Med City, Pediat Neurol Dept, Natl Neurosci Inst, POB 59046, Riyadh 11525, Saudi Arabia
- [39] Evaluating effects of myostatin loss-of-function mutation on piglets for potential causes of early mortalityJOURNAL OF ANIMAL SCIENCE, 2024, 102 : 55 - 55Burris, Elli S.论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Champaign, IL USA Univ Illinois, Champaign, IL USADilger, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Champaign, IL USA Univ Illinois, Champaign, IL USA
- [40] An ABCA4 loss-of-function mutation causes a canine form of Stargardt diseasePLOS GENETICS, 2019, 15 (03):Makelainen, Suvi论文数: 0 引用数: 0 h-index: 0机构: Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenGodia, Marta论文数: 0 引用数: 0 h-index: 0机构: Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden UB, Dept Anim Genom, CRAG, CSIC,IRTA,UAB, Campus UAB, Bellaterra, Spain Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenHellsand, Minas论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Dept Neurosci, Uppsala, Sweden Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenViluma, Agnese论文数: 0 引用数: 0 h-index: 0机构: Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenHahn, Daniela论文数: 0 引用数: 0 h-index: 0机构: Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenMakdoumi, Karim论文数: 0 引用数: 0 h-index: 0机构: Orebro Univ, Fac Med & Hlth, Dept Ophthalmol, Orebro, Sweden Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenZeiss, Caroline J.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, New Haven, CT USA Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenMellersh, Cathryn论文数: 0 引用数: 0 h-index: 0机构: Anim Hlth Trust, Kennel Club Genet Ctr, Lanwades Pk, Newmarket, Suffolk, England Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenRicketts, Sally L.论文数: 0 引用数: 0 h-index: 0机构: Anim Hlth Trust, Kennel Club Genet Ctr, Lanwades Pk, Newmarket, Suffolk, England Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenNarfstrom, Kristina论文数: 0 引用数: 0 h-index: 0机构: Univ Missouri, Coll Vet Med, Sect Comparat Ophthalmol, Columbia, MO USA Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenHallbook, Finn论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Dept Neurosci, Uppsala, Sweden Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenEkesten, Bjorn论文数: 0 引用数: 0 h-index: 0机构: Swedish Univ Agr Sci, Dept Clin Sci, Uppsala, Sweden Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenAndersson, Goran论文数: 0 引用数: 0 h-index: 0机构: Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, SwedenBergstrom, Tomas F.论文数: 0 引用数: 0 h-index: 0机构: Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden Swedish Univ Agr Sci, Dept Anim Breeding & Genet, Uppsala, Sweden