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- [21] Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (01) : 88 - 95Tang, Paoyun论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, Canada London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, CanadaUpton, Julia E. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Pediat, Hosp Sick Children, Div Immunol & Allergy, 7280-555 Univ Ave, Toronto, ON M5G 1X8, Canada London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, CanadaBarton-Forbes, Michelle A.论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, Canada London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, CanadaSalvadori, Marina I.论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, Canada London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, CanadaClynick, Meghan P.论文数: 0 引用数: 0 h-index: 0机构: Sunnybrook Hlth Sci Ctr, Dept Dermatol, Unit M1 100,2075 Bayview Ave, Toronto, ON M4N 3M5, Canada London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, CanadaPrice, April K.论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, Canada London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, CanadaGoobie, Sharan L.论文数: 0 引用数: 0 h-index: 0机构: Izaak Walton Killam IWK Hlth Ctr, Maritime Med Genet, Dept Pediat, 5850-5980 Univ Ave,POB 9700, Halifax, NS B3K 6R8, Canada London Hlth Sci Ctr, Dept Pediat, 800 Commissioners Rd East, London, ON N6A 5W9, Canada
- [22] Treatment of sweet syndrome by molecular identification of PIK3R1 mutationJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2022, 142 (08) : B37 - B37Bhattacharya, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USASheng, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USAMurphy, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USAWei, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USAKersh, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USANelson, C.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Dermatol, New Haven, CT USA Univ Penn, Dermatol, Philadelphia, PA 19104 USABryer, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USAAshchyan, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USASteele, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USAForrestel, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USASeykora, J. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USAMicheletti, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USAJames, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA VA Med Ctr Corporal Michael J Crescenz, Med, Philadelphia, PA USA Univ Penn, Dermatol, Philadelphia, PA 19104 USARosenbach, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA Univ Penn, Dermatol, Philadelphia, PA 19104 USALeung, T. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dermatol, Philadelphia, PA 19104 USA VA Med Ctr Corporal Michael J Crescenz, Med, Philadelphia, PA USA Univ Penn, Dermatol, Philadelphia, PA 19104 USA
- [23] Somatic PIK3R1 variation as a cause of vascular malformations and overgrowthGENETICS IN MEDICINE, 2021, 23 (10) : 1882 - 1888Cottrell, Catherine E.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USA Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USABender, Nicole R.论文数: 0 引用数: 0 h-index: 0机构: Univ Florida, Dept Dermatol, Gainesville, FL USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USAZimmermann, Michael T.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Genom Sci & Precis Med Ctr, Bioinformat Res & Dev Lab, Milwaukee, WI 53226 USA Med Coll Wisconsin, Clin & Translat Sci Inst, Milwaukee, WI 53226 USA Med Coll Wisconsin, Dept Biochem, Milwaukee, WI 53226 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USAHeusel, Jonathan W.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO USA Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USACorliss, Meagan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USAEvenson, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USAMagrini, Vincent论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USACorsmeier, Donald J.论文数: 0 引用数: 0 h-index: 0机构: Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USAAvenarius, Matthew论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Dept Pathol, Wexner Med Ctr, Columbus, OH 43210 USA Ohio State Univ, Wexner Med Ctr, Lab Med, Columbus, OH 43210 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USADudley, Jeffrey N.论文数: 0 引用数: 0 h-index: 0机构: Natl Human Genome Res Inst, Ctr Precis Hlth Res, Bethesda, MD 20892 USA Univ Michigan, Med Sch, Ann Arbor, MI 48109 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USAJohnston, Jennifer J.论文数: 0 引用数: 0 h-index: 0机构: Natl Human Genome Res Inst, Ctr Precis Hlth Res, Bethesda, MD 20892 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USALindhurst, Marjorie J.论文数: 0 引用数: 0 h-index: 0机构: Natl Human Genome Res Inst, Ctr Precis Hlth Res, Bethesda, MD 20892 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USA论文数: 引用数: h-index:机构:Davies, Olivia M. T.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Milwaukee, WI 53226 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USACoughlin, Carrie C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Div Dermatol, Dept Med & Pediat, St Louis, MO 63110 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USAFrieden, Ilona J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Dermatol, San Francisco, CA USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USATollefson, Megha论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Dermatol, Rochester, MN USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USAZaenglein, Andrea L.论文数: 0 引用数: 0 h-index: 0机构: Penn State Hershey Med Ctr, Dermatol & Pediat, Hershey, PA USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USACiliberto, Heather论文数: 0 引用数: 0 h-index: 0机构: Town Sq Dermatol, Coralville, IA USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USATosi, Laura L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Orthopaed & Sports Med, Washington, DC USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USASemple, Robert K.论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Ctr Cardiovasc Sci, Edinburgh, Midlothian, Scotland Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USABiesecker, Leslie G.论文数: 0 引用数: 0 h-index: 0机构: Natl Human Genome Res Inst, Ctr Precis Hlth Res, Bethesda, MD 20892 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USADrolet, Beth A.论文数: 0 引用数: 0 h-index: 0机构: Univ Wisconsin Madison, Sch Med & Publ Hlth, Madison, WI 53726 USA Nationwide Childrens Hosp, Steve & Cindy Rasmussen Inst Genom Med, Columbus, OH USA
- [24] Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiencyJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE, 2018, 6 (06): : 2165 - 2167Valencic, Erica论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, Italy IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, ItalyGrasso, Antonio Giacomo论文数: 0 引用数: 0 h-index: 0机构: Univ Trieste, Dept Med Surg & Hlth Sci, Str Fiume 447, I-34149 Trieste, Italy IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, ItalyConversano, Ester论文数: 0 引用数: 0 h-index: 0机构: Univ Trieste, Dept Med Surg & Hlth Sci, Str Fiume 447, I-34149 Trieste, Italy IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, ItalyLucafo, Marianna论文数: 0 引用数: 0 h-index: 0机构: Univ Trieste, Dept Med Surg & Hlth Sci, Str Fiume 447, I-34149 Trieste, Italy IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, Italy论文数: 引用数: h-index:机构:Gregori, Massimo论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, Italy IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, ItalyConti, Francesca论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Bambino Gesu, Dept Pediat, Rome, Italy IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, ItalyCancrini, Caterina论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Bambino Gesu, Dept Pediat, Rome, Italy Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, ItalyTommasini, Alberto论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, Italy IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Dept Pediat, Trieste, Italy
- [25] Functional variants of RPS6KB1 and PIK3R1 in the autophagy pathway genes and risk of bladder cancerArchives of Toxicology, 2022, 96 : 367 - 375Lan Ma论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public HealthDongjian Zhang论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public HealthZhengkai Huang论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public HealthRui Zheng论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public HealthMulong Du论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public HealthQiang Lv论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public HealthChao Qin论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public HealthHaiyan Chu论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public HealthLin Yuan论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public HealthZhengdong Zhang论文数: 0 引用数: 0 h-index: 0机构: Nanjing Medical University,Department of Environmental Genomics, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Personalized Medicine, School of Public Health
- [26] Functional variants of RPS6KB1 and PIK3R1 in the autophagy pathway genes and risk of bladder cancerARCHIVES OF TOXICOLOGY, 2022, 96 (01) : 367 - 375Ma, Lan论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Ctr Global Hlth, Dept Genet Toxicol,Key Lab Modern Toxicol,Minist, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R ChinaZhang, Dongjian论文数: 0 引用数: 0 h-index: 0机构: Jiangsu Prov Hosp Tradit Chinese Med, Dept Urol, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R ChinaHuang, Zhengkai论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Ctr Global Hlth, Dept Genet Toxicol,Key Lab Modern Toxicol,Minist, Nanjing, Peoples R China Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R ChinaZheng, Rui论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Ctr Global Hlth, Dept Genet Toxicol,Key Lab Modern Toxicol,Minist, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R ChinaDu, Mulong论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Ctr Global Hlth, Dept Biostat, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R ChinaLv, Qiang论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R ChinaQin, Chao论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R ChinaChu, Haiyan论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Ctr Global Hlth, Dept Genet Toxicol,Key Lab Modern Toxicol,Minist, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R ChinaYuan, Lin论文数: 0 引用数: 0 h-index: 0机构: Jiangsu Prov Hosp Tradit Chinese Med, Dept Urol, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R ChinaZhang, Zhengdong论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Ctr Global Hlth, Dept Genet Toxicol,Key Lab Modern Toxicol,Minist, Nanjing, Peoples R China Nanjing Med Univ, Sch Publ Hlth, Collaborat Innovat Ctr Canc Personalized Med, Dept Environm Gen,Jiangsu Key Lab Canc Biomarkers, Nanjing, Peoples R China
- [27] PIK3R1 mutation in mother and child with disseminated and congenital toxoplasmosisJOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 393 - 393Karanovic, Djuro论文数: 0 引用数: 0 h-index: 0机构: NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USAMichelow, Ian论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Providence, RI 02912 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USAHayward, Anthony论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Pediat, Providence, RI 02912 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USADe Ravin, Suk See论文数: 0 引用数: 0 h-index: 0机构: NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USANiemela, Julie论文数: 0 引用数: 0 h-index: 0机构: NIH, Lab Clin Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USAStoddard, Jennifer论文数: 0 引用数: 0 h-index: 0机构: NIH, Lab Clin Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USAPittaluga, Stefania论文数: 0 引用数: 0 h-index: 0机构: NCI, NIH, Bethesda, MD 20892 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USARosenzweig, Sergio论文数: 0 引用数: 0 h-index: 0机构: NIH, Serv Immunol, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USAUzel, Gulbu论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiolol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USANotarangelo, Luigi论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiolol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA
- [28] PIK3R1 Mutations Cause Syndromic Insulin Resistance with LipoatrophyAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (01) : 141 - 149Thauvin-Robinet, Christel论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Ctr Hosp Univ Dijon, Ctr Genet, F-21079 Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France论文数: 引用数: h-index:机构:Duplomb, Laurence论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceCaron-Debarle, Martine论文数: 0 引用数: 0 h-index: 0机构: Inst Natl Sante & Rech Med, Unite Mixte Rech S938, F-75012 Paris, France Univ Paris 06, Ctr Rech StAntoine, Unite Mixte Rech S938, F-75005 Paris, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceAvila, Magali论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceSt-Onge, Judith论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Ctr Hosp Univ Dijon, Genet Mol Lab, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceLe Merrer, Martine论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceLe Luyer, Bernard论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Le Havre, Serv Pediat, F-76083 Le Havre, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: La Pitie Salpetriere, Dept Genet, F-75651 Paris, France La Pitie Salpetriere, Ctr Reference Deficiences Intellectu, F-75651 Paris, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceMathieu-Dramard, Michele论文数: 0 引用数: 0 h-index: 0机构: Univ Amiens, Ctr Hosp, Serv Genet Clin, F-80054 Amiens, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceBitoun, Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Jean Verdier, Ctr Hosp, Serv Pediat, F-93143 Bondy, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FrancePetit, Jean-Michel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Dijon, Serv Endocrinol, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceOdent, Sylvie论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Rennes, Serv Genet Clin, F-35203 Rennes, France Univ Rennes 1, Inst Genet & Dev Rennes, Unite Mixte Rech 6290, Ctr Natl Rech Sci, F-35203 Rennes, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France论文数: 引用数: h-index:机构:Picot, Damien论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceCarmignac, Virginie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceThevenon, Julien论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Ctr Hosp Univ Dijon, Ctr Genet, F-21079 Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceCallier, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Ctr Hosp Univ Dijon, Lab Cytogenet, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceLaville, Martine论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lyon Sud, Dept Endocrinol Diabetol & Nutr Hospice, F-69530 Pierre Benite, France Univ Claude Bernard Lyon, Ctr Rech Nutr Humaine Rhone Alpes, Ctr Europeen Nutr & Sante, Inst Natl Sante & Rech Med Unite 1060, F-69530 Pierre Benite, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceReznik, Yves论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Cote De Nacre, Serv Endocrinol, F-14033 Caen, France Univ Caen Basse Normandie, Equipe Accueil 2608, Caen, France Inst Natl Rech Agronom, Unite Contrat 2006, F-14032 Caen, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceFagour, Cedric论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Bordeaux, Hop Haut Leveque, Dept Endocrinol, F-33604 Pessac, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceNunes, Marie-Laure论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Bordeaux, Hop Haut Leveque, Dept Endocrinol, F-33604 Pessac, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Huet, Frederic论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Ctr Hosp Univ Dijon, Serv Pediat 1, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, FranceFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Ctr Hosp Univ Dijon, Ctr Genet, F-21079 Dijon, France Ctr Hosp Univ Dijon, Ctr Reference Anomalies Dev & Syndromes Malformat, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France论文数: 引用数: h-index:机构:Riviere, Jean-Baptiste论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France Ctr Hosp Univ Dijon, Genet Mol Lab, F-21079 Dijon, France Univ Bourgogne, Genet Anomalies Dev, Equipe Accueil 4271, F-21079 Dijon, France
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