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- [41] Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patientINTRACTABLE & RARE DISEASES RESEARCH, 2018, 7 (01) : 19 - 24Lu, Yanqin论文数: 0 引用数: 0 h-index: 0机构: Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R China Univ Jinan, Sch Med & Life Sci, Shandong Acad Med Sci, Jinan, Shandong, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R ChinaDai, Yunzhang论文数: 0 引用数: 0 h-index: 0机构: Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R China Univ Jinan, Sch Med & Life Sci, Shandong Acad Med Sci, Jinan, Shandong, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R ChinaWang, Yanzhou论文数: 0 引用数: 0 h-index: 0机构: Shandong Prov Hosp, Dept Paediat Surg, Jinan, Shandong, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R ChinaZhai, Naixiang论文数: 0 引用数: 0 h-index: 0机构: Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R China Univ Jinan, Sch Med & Life Sci, Shandong Acad Med Sci, Jinan, Shandong, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R ChinaZhang, Jian论文数: 0 引用数: 0 h-index: 0机构: Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R China Univ Jinan, Sch Med & Life Sci, Shandong Acad Med Sci, Jinan, Shandong, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R ChinaLiu, Junlong论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Wuqing Dist, Dept Orthopaed Surg, 100 Yogyang West Rd, Tianjin 301700, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R ChinaYin, Xiaoli论文数: 0 引用数: 0 h-index: 0机构: Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R China Univ Jinan, Sch Med & Life Sci, Shandong Acad Med Sci, Jinan, Shandong, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R ChinaLi, Tianyou论文数: 0 引用数: 0 h-index: 0机构: Shandong Prov Hosp, Dept Paediat Surg, Jinan, Shandong, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R ChinaRen, Xiuzhi论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Wuqing Dist, Dept Orthopaed Surg, 100 Yogyang West Rd, Tianjin 301700, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R ChinaHan, Jinxiang论文数: 0 引用数: 0 h-index: 0机构: Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R China Univ Jinan, Sch Med & Life Sci, Shandong Acad Med Sci, Jinan, Shandong, Peoples R China Shandong Acad Med Sci, Shandong Med Biotechnol Ctr, Key Lab Rare & Uncommon Dis Shandong Prov, Key Lab Biotech Drugs,Minist Hlth, Jinan, Shandong, Peoples R China
- [42] Identification and expression of a novel heterozygous frameshift mutation in FGA accounting for congenital hypofibrinogenemia in carriers of severe hemophilia ATHROMBOSIS RESEARCH, 2020, 193 : 5 - 8Vilar, Rui论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Fac Med, Dept Genet Med & Dev, Geneva, Switzerland Univ Geneva, Fac Med, Dept Genet Med & Dev, Geneva, SwitzerlandCasini, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Fac Med, Div Angiol & Hemostasis, Univ Hosp, Geneva, Switzerland Univ Geneva, Fac Med, Dept Genet Med & Dev, Geneva, SwitzerlandFournel, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Besancon, Haemophilia Treatment Ctr, Besancon, France Univ Geneva, Fac Med, Dept Genet Med & Dev, Geneva, SwitzerlandMourey, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Besancon, Haemophilia Treatment Ctr, Besancon, France Etab Francais Sang, Hemostasis Lab, Besancon, France Univ Geneva, Fac Med, Dept Genet Med & Dev, Geneva, SwitzerlandNeerman-Arbez, Marguerite论文数: 0 引用数: 0 h-index: 0机构: Univ Geneva, Fac Med, Dept Genet Med & Dev, Geneva, Switzerland Inst Genet & Genom Geneva, iGE3, Geneva, Switzerland Univ Geneva, Fac Med, Dept Genet Med & Dev, Geneva, Switzerland
- [43] A novel compound heterozygous leptin receptor mutation causes more severe obesity than in Leprdb/db miceJOURNAL OF LIPID RESEARCH, 2021, 62Berger, Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyHeyne, Henrike O.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Inst Human Genet, Med Dept, Leipzig, Germany Inst Mol Med Finland FIMM, Helsinki, Finland Broad Inst Harvard & MIT, Cambridge, MA USA Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyHeiland, Tina论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Div Gastroenterol & Rheumatol, Med Dept,Neurol & Dermatol, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyDommel, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyHoefling, Corinna论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Div Gastroenterol & Rheumatol, Med Dept,Neurol & Dermatol, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyGuiu-Jurado, Esther论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyLorenz, Jana论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Div Gastroenterol & Rheumatol, Med Dept,Neurol & Dermatol, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyRossner, Steffen论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Paul Flechsig Inst Brain Res, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyDannemann, Michael论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Evolutionary Anthropol, Dept Evolutionary Genet, Leipzig, Germany Univ Tartu, Inst Genom, Tartu, Estonia Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyKelso, Janet论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Evolutionary Anthropol, Dept Evolutionary Genet, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyKovacs, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyBlueher, Matthias论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, Germany Univ Leipzig, Helmholtz Zentrum Munchen, Helmholtz Inst Metab Obes & Vasc Res HIMAG, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, GermanyKloeting, Nora论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, Germany Univ Leipzig, Helmholtz Zentrum Munchen, Helmholtz Inst Metab Obes & Vasc Res HIMAG, Leipzig, Germany Univ Leipzig, Med Ctr, Med Dept 3, Endocrinol,Nephrol,Rheumatol, CRC1052, Leipzig, Germany
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