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- [31] A novel mutation in TRPV3 gene causes atypical familial Olmsted syndromeSCIENTIFIC REPORTS, 2016, 6Ni, Cheng论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaYan, Ming论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaZhang, Jia论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaCheng, Ruhong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaLiang, Jianying论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaDeng, Dan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaWang, Zhen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaLi, Ming论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R ChinaYao, Zhirong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Dept Dermatol, Xinhua Hosp, 1665 Kongjiang Rd, Shanghai 200092, Peoples R China
- [32] Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA geneJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (05): : 2289 - 2295Schmidt, HHJ论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanyGenschel, J论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanyBaier, P论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanySchmidt, M论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanyOckenga, J论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanyTietge, UJF论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanyPröpsting, M论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanyBüttner, C论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanyManns, MP论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanyLochs, H论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, GermanyBrabant, G论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Med Klin Gastroenterol Hepatol & Endokrinol, D-10098 Berlin, Germany
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Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R China Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R ChinaLi, Xuan论文数: 0 引用数: 0 h-index: 0机构: Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R China Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R ChinaXie, Qiaoling论文数: 0 引用数: 0 h-index: 0机构: Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R China Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R ChinaLi, Qiao论文数: 0 引用数: 0 h-index: 0机构: Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R China Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R ChinaZhou, Xueqian论文数: 0 引用数: 0 h-index: 0机构: Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R China Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R ChinaZou, Huiling论文数: 0 引用数: 0 h-index: 0机构: Changsha Hosp Maternal & Child Hlth Care, Dept Pediat, Changsha, Peoples R China Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R ChinaFan, Shijun论文数: 0 引用数: 0 h-index: 0机构: Third Mil Med Univ, Southwest Hosp, Med Res Ctr, Army Med Univ, Chongqing, Peoples R China Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis Ctr, Dept Gastroenterol,Army Med Univ, Chongqing, Peoples R ChinaZou, Lingyun论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Baoan Maternal & Child Hlth Hosp, Shenzhen, Peoples R China Third Mil Med Univ, Southwest Hosp, Cholestat Liver Dis 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- [35] Novel R634W c-kit Mutation Identified in Familial MastocytosisPEDIATRIC DERMATOLOGY, 2015, 32 (02) : 267 - 270Pollard, Whitney L.论文数: 0 引用数: 0 h-index: 0机构: San Antonio Mil Med Ctr, Ft Sam Houston, TX USA San Antonio Mil Med Ctr, Ft Sam Houston, TX USABeachkofsky, Thomas M.论文数: 0 引用数: 0 h-index: 0机构: Dept Dermatol, Ft Sam Houston, TX USA San Antonio Mil Med Ctr, Ft Sam Houston, TX USAKobayashi, Todd T.论文数: 0 引用数: 0 h-index: 0机构: Dept Dermatol, Ft Sam Houston, TX USA San Antonio Mil Med Ctr, Ft Sam Houston, TX USA
- [36] A Novel Albumin Gene Mutation (R222I) in Familial Dysalbuminemic HyperthyroxinemiaJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (07): : E1381 - E1386Schoenmakers, Nadia论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandMoran, Carla论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England论文数: 引用数: h-index:机构:Agostini, Maura论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandBacon, Olivia论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Dept Clin Biochem, Cambridge CB2 2OO, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandRajanayagam, Odelia论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandSchwabe, John论文数: 0 引用数: 0 h-index: 0机构: Univ Leicester, Dept Biochem, Leicester LE1 7RH, Leics, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandBradbury, Sonia论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Dept Clin Biochem, Cambridge CB2 2OO, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandBarrett, Timothy论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Paediat, Birmingham B15 2TT, W Midlands, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandGeoghegan, Frank论文数: 0 引用数: 0 h-index: 0机构: Ealing Gen Hosp, Dept Clin Biochem, London UB1 3EU, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandDruce, Maralyn论文数: 0 引用数: 0 h-index: 0机构: St Bartholomews Hosp, Dept Endocrinol, London E1 4NS, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandBeck-Peccoz, Paolo论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Inst Endocrine Sci, I-20132 Milan, Italy Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandO'Toole, Angela论文数: 0 引用数: 0 h-index: 0机构: Selly Oak Hosp, Dept Clin Biochem, Birmingham B29 6JD, W Midlands, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandClark, Penelope论文数: 0 引用数: 0 h-index: 0机构: Selly Oak Hosp, Dept Clin Biochem, Birmingham B29 6JD, W Midlands, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandBignell, Michelle论文数: 0 引用数: 0 h-index: 0机构: Birmingham Childrens Hosp, Dept Clin Chem, Birmingham B15 2TT, W Midlands, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandLyons, Greta论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandHalsall, David论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Dept Clin Biochem, Cambridge CB2 2OO, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandGurnell, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, EnglandChatterjee, Krishna论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Med Res Council Inst Metab Sci, Metab Res Labs, Cambridge CB2 0QQ, England
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