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- [41] Requirement of Goosecoid in early Xenopus development:: A loss-of-function studyDEVELOPMENTAL BIOLOGY, 2007, 306 (01) : 356 - 356Sander, Veronika论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Howard Hughes Med Inst, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Howard Hughes Med Inst, Los Angeles, CA 90024 USAReversade, Bruno论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Howard Hughes Med Inst, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Howard Hughes Med Inst, Los Angeles, CA 90024 USADe Robertis, E. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Howard Hughes Med Inst, Los Angeles, CA 90024 USA Univ Calif Los Angeles, Howard Hughes Med Inst, Los Angeles, CA 90024 USA
- [42] A loss-of-function variant in SPIN4 causes a new overgrowth syndromeHORMONE RESEARCH IN PAEDIATRICS, 2023, 96 (SUPPL 3): : 163 - 164Jee, Youn Hee论文数: 0 引用数: 0 h-index: 0机构: NICHD, NIH, Bethesda, MD USA NICHD, NIH, Bethesda, MD USAWagner, Jacob论文数: 0 引用数: 0 h-index: 0机构: NICHD, Bethesda, MD USA NICHD, NIH, Bethesda, MD USAZhou, Elaine论文数: 0 引用数: 0 h-index: 0机构: NICHD, Bethesda, MD USA NICHD, NIH, Bethesda, MD USADong, Lijin论文数: 0 引用数: 0 h-index: 0机构: NEI, Bethesda, MD USA NICHD, NIH, Bethesda, MD USABarnes, Kevin M.论文数: 0 引用数: 0 h-index: 0机构: NICHD, Bethesda, MD USA NICHD, NIH, Bethesda, MD USABaron, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: NICHD, Bethesda, MD USA NICHD, NIH, Bethesda, MD USALui, Julian论文数: 0 引用数: 0 h-index: 0机构: NICHD, Bethesda, MD USA NICHD, NIH, Bethesda, MD USA
- [43] A homozygous loss-of-function variant in the MPO gene is associated with generalized pustular psoriasisJOURNAL OF DERMATOLOGY, 2023, 50 (05): : 664 - 671论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Iqbal, Muhammad Nasir论文数: 0 引用数: 0 h-index: 0机构: Islamia Univ Bahawalpur, Inst Biochem Biotechnol & Bioinformat IBBB, Dept Bioinformat, Bahawalpur, Pakistan Yamaguchi Univ, Grad Sch Med, Dept Dermatol, 1-1-1 Minami Kogushi, Ube, Yamaguchi 7558505, JapanYasuno, Shuichiro论文数: 0 引用数: 0 h-index: 0机构: Yamaguchi Univ, Grad Sch Med, Dept Dermatol, 1-1-1 Minami Kogushi, Ube, Yamaguchi 7558505, Japan Yamaguchi Univ, Grad Sch Med, Dept Dermatol, 1-1-1 Minami Kogushi, Ube, Yamaguchi 7558505, JapanShimomura, Yutaka论文数: 0 引用数: 0 h-index: 0机构: Yamaguchi Univ, Grad Sch Med, Dept Dermatol, 1-1-1 Minami Kogushi, Ube, Yamaguchi 7558505, Japan Yamaguchi Univ, Grad Sch Med, Dept Dermatol, 1-1-1 Minami Kogushi, Ube, Yamaguchi 7558505, Japan
- [44] The evaluation of a loss-of-function GBA variant found in Gaucher patients with Parkinson diseaseMOLECULAR GENETICS AND METABOLISM, 2011, 102 (02) : S19 - S20Gustafson, Ann Marie论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAVelayati, Arash论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USABlech-Hermoni, Yotam论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAChoi, Jae论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAWestbroek, Wendy论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USALandazabal, Claudia论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAGoldin, Ehud论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USAStubblefield, Barbara论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USASidransky, Ellen论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USATayebi, Nahid论文数: 0 引用数: 0 h-index: 0机构: NHGRI, NIH, Bethesda, MD 20892 USA NHGRI, NIH, Bethesda, MD 20892 USA
- [45] Another case of holoprosencephaly associated with RAD21 loss-of-function variantBRAIN, 2020, 143 (08)Goel, Himanshu论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet, Waratah, NSW 2298, Australia Hunter Genet, Waratah, NSW 2298, AustraliaParasivam, Gayathri论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet, Waratah, NSW 2298, Australia Hunter Genet, Waratah, NSW 2298, Australia
- [46] Another case of holoprosencephaly associated with RAD21 loss-of-function variantBRAIN, 2020, 143Goel, Himanshu论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet, Waratah, NSW 2298, Australia Hunter Genet, Waratah, NSW 2298, AustraliaParasivam, Gayathri论文数: 0 引用数: 0 h-index: 0机构: Hunter Genet, Waratah, NSW 2298, Australia Hunter Genet, Waratah, NSW 2298, Australia
- [47] SMAD1 Loss-of-Function Variant Responsible for Congenital Heart DiseaseBIOMED RESEARCH INTERNATIONAL, 2022, 2022Wang, Zhi论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaQiao, Xiao-Hui论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaXu, Ying-Jia论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Shanghai Peoples Hosp 5, Dept Cardiol, Shanghai 200240, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaLiu, Xing-Yuan论文数: 0 引用数: 0 h-index: 0机构: Tongji Univ, Tongji Hosp, Dept Pediat, Sch Med, Shanghai 200065, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaHuang, Ri-Tai论文数: 0 引用数: 0 h-index: 0机构: Shanghai Tong Univ, Renji Hosp, Sch Med, Dept Cardiovasc Surg, Shanghai 200127, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaXue, Song论文数: 0 引用数: 0 h-index: 0机构: Shanghai Tong Univ, Renji Hosp, Sch Med, Dept Cardiovasc Surg, Shanghai 200127, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaQiu, Hai-Yan论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaYang, Yi-Qing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Shanghai Peoples Hosp 5, Dept Cardiol, Shanghai 200240, Peoples R China Fudan Univ, Dept Cardiovasc Res Lab, Shanghai Peoples Hosp 5, Shanghai 200240, Peoples R China Fudan Univ, Shanghai Peoples Hosp 6, Dept Cent Lab, Shanghai 200240, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R China
- [48] A partial loss-of-function variant in STATE protects against type 2 asthmaJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2025, 155 (01) : 228 - 235Kristjansdottir, Katla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, IcelandIvarsdottir, Erna, V论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandHalldorsson, Gisli H.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, IcelandEinarsson, Gudmundur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, IcelandRutsdottir, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandArnthorsson, Asgeir 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, IcelandErikstrup, Christian论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Dept Clin Immunol, Aarhus, Denmark Aarhus Univ, Dept Clin Med, Aarhus, Denmark 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, IcelandGunnarsdottir, 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, IcelandGunnbjornsdottir, Maria I.论文数: 0 引用数: 0 h-index: 0机构: Landspitali Natl Univ Hosp Iceland, Allergy Dept, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandHalldorsson, Bjarni, V论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Reykjavik Univ, Sch Technol, 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, IcelandLudviksdottir, Dora论文数: 0 引用数: 0 h-index: 0机构: Landspitali Natl Univ Hosp Iceland, Allergy Dept, Reykjavik, Iceland Univ Iceland, Sch Hlth Sci, Fac Med, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandLudviksson, Bjorn R.论文数: 0 引用数: 0 h-index: 0机构: Landspitali The Natl Univ Hosp Iceland, Dept Cardiol, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandBrunak, Soren论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Novo Nordisk Fdn, Fac Hlth & Med Sci, Ctr Prot Res, Copenhagen, Denmark Amgen Inc, DeCODE Genet, Reykjavik, IcelandBruun, Mie Topholm论文数: 0 引用数: 0 h-index: 0机构: Odense Univ Hosp, Dept Clin Immunol, Odense, Denmark Amgen Inc, DeCODE Genet, Reykjavik, IcelandMikkelsen, Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Novo Nordisk Fdn, Ctr Basic Metab Res, Fac Hlth & Med Sci, Copenhagen, Denmark Copenhagen Univ Hosp, Dept Clin Immunol, Rigshosp, Copenhagen, Denmark Amgen Inc, DeCODE Genet, Reykjavik, IcelandMikkelsen, Susan论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ, Dept Clin Immunol, Aarhus, Denmark Amgen Inc, DeCODE Genet, Reykjavik, IcelandJensen, Bitten Aagaard论文数: 0 引用数: 0 h-index: 0机构: Aalborg Univ Hosp, Dept Clin Immunol, Aalborg, Denmark Amgen Inc, DeCODE Genet, Reykjavik, IcelandSorensen, Erik论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Clin Immunol, Rigshosp, Copenhagen, Denmark Amgen Inc, DeCODE Genet, Reykjavik, Iceland论文数: 引用数: h-index:机构:Ullum, Henrik论文数: 0 引用数: 0 h-index: 0机构: Statens Serum Inst, Copenhagen, Denmark Amgen Inc, DeCODE Genet, Reykjavik, IcelandOlafsson, Isleifur论文数: 0 引用数: 0 h-index: 0机构: Landspitali The Natl Univ Hosp Iceland, Dept Clin Pharm, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandOnundarson, Pall T.论文数: 0 引用数: 0 h-index: 0机构: Univ Iceland, Sch Hlth Sci, Fac Med, Reykjavik, Iceland Landspitali The Natl Univ Hosp Iceland, Dept Clin Pharm, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandOstrowski, Sisse Rye论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Clin Immunol, Rigshosp, Copenhagen, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark Amgen Inc, DeCODE Genet, Reykjavik, IcelandSaevarsdottir, Saedis论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Univ Iceland, Sch Hlth Sci, Fac Med, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandSigurdardottir, Olof论文数: 0 引用数: 0 h-index: 0机构: Akureyri Hosp, Dept Orthoped Surg, Akureyri, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandSigurgeirsson, Bardur论文数: 0 引用数: 0 h-index: 0机构: Univ Iceland, Fac Med, Dept Pharm, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandSnaebjarnarson, Audunn S.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandSveinbjornsson, Gardar论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandThorlacius, Gudny E.论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandThorleifsson, Gudmar论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandTragante, Vinicius论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandVidarsson, Brynjar论文数: 0 引用数: 0 h-index: 0机构: Iceland Med Ctr Laeknasetrid, Lab Mjodd RAM, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandPorsbjerg, Celeste论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark Bispebjerg Hosp, Dept Resp Med & Infect Dis, Copenhagen, Denmark Amgen Inc, DeCODE Genet, Reykjavik, IcelandBjornsdottir, Unnur S.论文数: 0 引用数: 0 h-index: 0机构: Landspitali Natl Univ Hosp Iceland, Dept Med, 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, IcelandGudbjartsson, Daniel 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, IcelandMelsted, Pall论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, IcelandPedersen, Ole Bv.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark Zealand Univ Hosp, Dept Clin Immunol, Koge, Denmark 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 Amgen Inc, DeCODE Genet, Reykjavik, IcelandOlafsdottir, Thorunn 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, IcelandStefansson, Kari论文数: 0 引用数: 0 h-index: 0机构: Amgen Inc, DeCODE Genet, Reykjavik, Iceland Amgen Inc, DeCODE Genet, Reykjavik, Iceland
- [49] Novel hemizygous loss-of-function variant in NONO identified in a South African boyAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (01) : 373 - 376Coetzer, Kimberly Christine论文数: 0 引用数: 0 h-index: 0机构: Stellenbosch Univ, Div Mol Biol & Human Genet, Cape Town, South Africa Stellenbosch Univ, Div Mol Biol & Human Genet, Cape Town, South AfricaMoosa, Shahida论文数: 0 引用数: 0 h-index: 0机构: Stellenbosch Univ, Div Mol Biol & Human Genet, Cape Town, South Africa Tygerberg Hosp, Dept Med Genet, Cape Town, South Africa Stellenbosch Univ, Div Mol Biol & Human Genet, Cape Town, South Africa
- [50] Characterization of a new mouse p53 variant: loss-of-function and gain-of-functionJOURNAL OF BIOMEDICAL SCIENCE, 2014, 21Chan, James Yi-Hsin论文数: 0 引用数: 0 h-index: 0机构: Natl Def Med Ctr, Dept Microbiol & Immunol, Taipei 114, Taiwan Natl Def Med Ctr, Tri Serv Gen Hosp, Dept Family & Community Med, Taipei 114, Taiwan Natl Def Med Ctr, Dept Microbiol & Immunol, Taipei 114, TaiwanChen, Ying-Chuan论文数: 0 引用数: 0 h-index: 0机构: Natl Def Med Ctr, Dept Biochem, Taipei 114, Taiwan Natl Def Med Ctr, Dept Microbiol & Immunol, Taipei 114, TaiwanLiu, Shu-Ting论文数: 0 引用数: 0 h-index: 0机构: Natl Def Med Ctr, Dept Biochem, Taipei 114, Taiwan Natl Def Med Ctr, Dept Microbiol & Immunol, Taipei 114, TaiwanChou, Wei-Yuan论文数: 0 引用数: 0 h-index: 0机构: Natl Def Med Ctr, Dept Biochem, Taipei 114, Taiwan Natl Def Med Ctr, Dept Microbiol & Immunol, Taipei 114, TaiwanHo, Ching-Liang论文数: 0 引用数: 0 h-index: 0机构: Natl Def Med Ctr, Tri Serv Gen Hosp, Div Hematol Oncol, Dept Med, Taipei 114, Taiwan Natl Def Med Ctr, Dept Microbiol & Immunol, Taipei 114, TaiwanHuang, Shih-Ming论文数: 0 引用数: 0 h-index: 0机构: Natl Def Med Ctr, Dept Biochem, Taipei 114, Taiwan Natl Def Med Ctr, Dept Microbiol & Immunol, Taipei 114, Taiwan