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- [41] A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermiaCLINICAL GENETICS, 2022, 101 (01) : 55 - 64Wu, Huan论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, NHC Key Lab Study Abnormal Gametes & Reprod Tract, Hefei, Peoples R China Anhui Med Univ, Minist Educ Peoples Republ China, Key Lab Populat Hlth Life Cycle, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaZhang, Xin论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Sch Basic Med Sci, Dept Histol & Embryol, State Key Lab Reprod Med, Nanjing 210029, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaShen, Qunshan论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, Anhui Prov Key Lab Reprod Hlth & Genet, Hefei, Peoples R China Anhui Med Univ, Anhui Prov Engn Res Ctr, Biopreservat & Artificial Organs, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaLiu, Yiyuan论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaGao, Yang论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, Anhui Prov Key Lab Reprod Hlth & Genet, Hefei, Peoples R China Anhui Med Univ, Anhui Prov Engn Res Ctr, Biopreservat & Artificial Organs, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaWang, Guanxiong论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaLv, Mingrong论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, Anhui Prov Key Lab Reprod Hlth & Genet, Hefei, Peoples R China Anhui Med Univ, Anhui Prov Engn Res Ctr, Biopreservat & Artificial Organs, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaHua, Rong论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Sch Basic Med Sci, Dept Histol & Embryol, State Key Lab Reprod Med, Nanjing 210029, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaXu, Yuping论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, Anhui Prov Key Lab Reprod Hlth & Genet, Hefei, Peoples R China Anhui Med Univ, Anhui Prov Engn Res Ctr, Biopreservat & Artificial Organs, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaZhou, Ping论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, Anhui Prov Key Lab Reprod Hlth & Genet, Hefei, Peoples R China Anhui Med Univ, Anhui Prov Engn Res Ctr, Biopreservat & Artificial Organs, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaWei, Zhaolian论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, Anhui Prov Key Lab Reprod Hlth & Genet, Hefei, Peoples R China Anhui Med Univ, Anhui Prov Engn Res Ctr, Biopreservat & Artificial Organs, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaTao, Fangbiao论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, NHC Key Lab Study Abnormal Gametes & Reprod Tract, Hefei, Peoples R China Anhui Med Univ, Minist Educ Peoples Republ China, Key Lab Populat Hlth Life Cycle, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaHe, Xiaojin论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, NHC Key Lab Study Abnormal Gametes & Reprod Tract, Hefei, Peoples R China Anhui Med Univ, Minist Educ Peoples Republ China, Key Lab Populat Hlth Life Cycle, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaCao, Yunxia论文数: 0 引用数: 0 h-index: 0机构: Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China Anhui Med Univ, NHC Key Lab Study Abnormal Gametes & Reprod Tract, Hefei, Peoples R China Anhui Med Univ, Minist Educ Peoples Republ China, Key Lab Populat Hlth Life Cycle, Hefei, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R ChinaLiu, Mingxi论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Sch Basic Med Sci, Dept Histol & Embryol, State Key Lab Reprod Med, Nanjing 210029, Peoples R China Anhui Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, 218 Jixi Rd, Hefei 230022, Peoples R China
- [42] A homozygous loss-of-function mutation in C17orf62 causes chronic granulomatous diseaseEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 835 - 836Arnadottir, G. A.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandNorddahl, G. L.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandGudmundsdottir, S.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandAgustsdottir, A. B.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandSigurdsson, S.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandJensson, B. O.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandBjarnadottir, K.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandTheodors, F.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandBenonisdottir, S.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandIvarsdottir, E. V.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandOddsson, A.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandKristjansson, R. P.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandSulem, G.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandMasson, G.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandOrvar, K. 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 deCODE Genet Amgen, Reykjavik, IcelandHolm, H.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandBjornsson, S.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 deCODE Genet Amgen, Reykjavik, IcelandArngrimsson, R.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 deCODE Genet Amgen, Reykjavik, IcelandGudbjartsson, D. F.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandThorsteinsdottir, U.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandJonsdottir, I.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandHaraldsson, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Iceland, Fac Med, Reykjavik, Iceland Landspitali Univ Hosp, Childrens Hosp Iceland, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandSulem, P.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, IcelandStefansson, K.论文数: 0 引用数: 0 h-index: 0机构: deCODE Genet Amgen, Reykjavik, Iceland Univ Iceland, Fac Med, Reykjavik, Iceland deCODE Genet Amgen, Reykjavik, Iceland
- [43] A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literatureJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2016, 4 (04): : 777 - 779Burns, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, Australia Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, AustraliaCheung, Abigail论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Dept Immunol, Melbourne, Vic, Australia Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, AustraliaStark, Zornitza论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, AustraliaChoo, Sharon论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Dept Immunol, Melbourne, Vic, Australia Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, AustraliaDownie, Lilian论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, AustraliaWhite, Sue论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia Univ Melbourne, Melbourne, Vic, Australia Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, AustraliaConyers, Rachel论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, Australia Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, AustraliaCole, Theresa论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Dept Immunol, Melbourne, Vic, Australia Royal Childrens Hosp, Childrens Canc Ctr, Melbourne, Vic, Australia
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