共 50 条
- [1] A LOSS-OF-FUNCTION VARIANT OF THE ANTIVIRAL MOLECULE MAVS IS ASSOCIATED WITH A SUBSET OF SYSTEMIC LUPUS PATIENTSINFLAMMATION RESEARCH, 2011, 60 : 67 - 67Pothlichet, J.论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, INSERM, U874, F-75724 Paris, France Inst Pasteur, INSERM, U874, F-75724 Paris, France论文数: 引用数: h-index:机构:Vitour, D.论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, INSERM, U874, F-75724 Paris, France Inst Pasteur, INSERM, U874, F-75724 Paris, FranceSolhonne, B.论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, INSERM, U874, F-75724 Paris, France Inst Pasteur, INSERM, U874, F-75724 Paris, FranceCrow, M. K.论文数: 0 引用数: 0 h-index: 0机构: Hosp Special Surg, New York, NY 10021 USA Inst Pasteur, INSERM, U874, F-75724 Paris, FrancePothlichet, M.论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, INSERM, U874, F-75724 Paris, France Inst Pasteur, INSERM, U874, F-75724 Paris, France
- [2] A loss-of-function variant of the antiviral molecule MAVS is associated with a subset of systemic lupus patientsEMBO MOLECULAR MEDICINE, 2011, 3 (03) : 142 - 152Pothlichet, Julien论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Unite Def Innee & Inflammat, Paris, France Inserm U874, Paris, France Dept Human Genet, Montreal, PQ, Canada Inst Pasteur, Unite Def Innee & Inflammat, Paris, FranceNiewold, Timothy B.论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Rheumatol Sect, Chicago, IL 60637 USA Inst Pasteur, Unite Def Innee & Inflammat, Paris, FranceVitour, Damien论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Unite Def Innee & Inflammat, Paris, France Inserm U874, Paris, France ANSES INRA ENVA, Maisons Alfort, France Inst Pasteur, Unite Def Innee & Inflammat, Paris, FranceSolhonne, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Unite Def Innee & Inflammat, Paris, France Inserm U874, Paris, France Inst Pasteur, Unite Def Innee & Inflammat, Paris, FranceCrow, Mary K.论文数: 0 引用数: 0 h-index: 0机构: Hosp Special Surg, New York, NY 10021 USA Inst Pasteur, Unite Def Innee & Inflammat, Paris, France论文数: 引用数: h-index:机构:
- [3] A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosusHUMAN MOLECULAR GENETICS, 2009, 18 (03) : 569 - 579Orru, Valeria论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USATsai, Sophia J.论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USARueda, Blanca论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada, Spain Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAFiorillo, Edoardo论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAStanford, Stephanie M.论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USADasgupta, Jhimli论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAHartiala, Jaana论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USA Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAZhao, Lei论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAOrtego-Centeno, Norberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin San Cecilio, Dept Internal Med, Granada, Spain Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAD'Alfonso, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Piemonte Orientale, Dept Med Sci, Novara, Italy Univ Piemonte Orientale, Interdisciplinary Res Ctr Autoimmune Dis, Novara, Italy Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAArnett, Frank C.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Houston, Sch Med, Dept Rheumatol, Houston, TX USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAWu, Hui论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAGonzalez-Gay, Miguel A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Xeral Calde, Rheumatol Unit, Lugo, Spain Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USATsao, Betty P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Los Angeles, CA 90095 USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAPons-Estel, Bernardo论文数: 0 引用数: 0 h-index: 0机构: Sanatorio Parque, Rosario, Santa Fe, Argentina Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAAlarcon-Riquelme, Marta E.论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Rudbeck Lab, Dept Genet & Pathol, Uppsala, Sweden Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAHe, Yantao论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Sch Med, Dept Biochem & Mol Biol, Indianapolis, IN USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAZhang, Zhong-Yin论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Sch Med, Dept Biochem & Mol Biol, Indianapolis, IN USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAAllayee, Hooman论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USA Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAChen, Xiaojiang S.论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USAMartin, Javier论文数: 0 引用数: 0 h-index: 0机构: CSIC, Inst Parasitol & Biomed Lopez Neyra, Granada, Spain Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USABottini, Nunzio论文数: 0 引用数: 0 h-index: 0机构: Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USA Univ So Calif, Inst Med Genet, Keck Sch Med, Los Angeles, CA 90033 USA
- [4] Familial systemic lupus erythematosus associated with a loss-of-function mutation in TRPC6ANNALS OF THE RHEUMATIC DISEASES, 2023, 82 (08) : 1120 - 1122Chen, Dandan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Rheumatol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Rheumatol, Shanghai, Peoples R ChinaYin, Hanlin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Rheumatol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Rheumatol, Shanghai, Peoples R ChinaZhang, Le论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Rheumatol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Rheumatol, Shanghai, Peoples R ChinaLi, Fubin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Ruijin Hosp, Sch Med, Ctr Immune Related Dis Shanghai Inst Immunol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Inst Immunol,Sch Med, Fac Basic Med, Key Lab Cell Differentiat & Apoptosis Chinese Mini, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Immunol, Fac Basic Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp,Sch Med, Dept Rheumatol, Ctr Immune Related Dis Shanghai Inst Immunol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Key Lab Cell Differentiat Apoptosis, Chinese Minist Educ, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Rheumatol, Shanghai, Peoples R ChinaLu, Liangjing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Rheumatol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Dept Rheumatol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Affiliated Renji Hosp, Rheumatol, Shanghai, Peoples R China
- [5] Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosusNATURE GENETICS, 2011, 43 (12) : 1186 - 1188Al-Mayouf, Sulaiman M.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Rheumatol Sect, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaSunker, Asma论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia论文数: 引用数: h-index:机构:Al Abrawi, Safiya论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Dept Child Hlth, Muscat, Oman King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaAlmurshedi, Fathiya论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Dept Genet, Muscat, Oman King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaAlhashmi, Nadia论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp, Dept Child Hlth, Muscat, Oman King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaAl Sonbul, Abdullah论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Rheumatol Sect, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaSewairi, Wafaa论文数: 0 引用数: 0 h-index: 0机构: King Fahad Natl Guard Hosp, Div Rheumatol, Dept Med, Riyadh, Saudi Arabia King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaQari, Aliya论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaAbdallah, Eiman论文数: 0 引用数: 0 h-index: 0机构: Sultan Qaboos Univ Hosp, Dept Child Hlth, Muscat, Oman King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaAl-Owain, Mohammed论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh, Saudi Arabia Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaAl Motywee, Saleh论文数: 0 引用数: 0 h-index: 0机构: King Fahad Natl Guard Hosp, Div Rheumatol, Dept Med, Riyadh, Saudi Arabia King Abdullah Int Med Res Ctr, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaAl-Rayes, Hanan论文数: 0 引用数: 0 h-index: 0机构: Riyadh Mil Hosp, Dept Med, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaHashem, Mais论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaKhalak, Hanif论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaAl-Jebali, Latifa论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi ArabiaAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
- [6] Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosusNature Genetics, 2011, 43 : 1186 - 1188Sulaiman M Al-Mayouf论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsAsma Sunker论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsReem Abdwani论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsSafiya Al Abrawi论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsFathiya Almurshedi论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsNadia Alhashmi论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsAbdullah Al Sonbul论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsWafaa Sewairi论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsAliya Qari论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsEiman Abdallah论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsMohammed Al-Owain论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsSaleh Al Motywee论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsHanan Al-Rayes论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsMais Hashem论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsHanif Khalak论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsLatifa Al-Jebali论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of PediatricsFowzan S Alkuraya论文数: 0 引用数: 0 h-index: 0机构: Rheumatology Section,Department of Pediatrics
- [7] Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSNBLOOD, 2018, 132 (06) : 658 - 662Magoulas, Pilar L.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAShchelochkov, Oleg A.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA Texas Childrens Hosp, Houston, TX 77030 USABainbridge, Matthew N.论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Inst Genom Med, San Diego, CA USA Texas Childrens Hosp, Houston, TX 77030 USABen-Shachar, Shay论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Genet Inst, Tel Aviv Sourasky Med Ctr, Sackler Fac Med, Tel Aviv, Israel Texas Childrens Hosp, Houston, TX 77030 USAYatsenko, Svetlana论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Sch Med, Dept Obstet Gynecol & Reprod Sci, Pittsburgh, PA USA Univ Pittsburgh, Sch Med, Dept Pathol, Pittsburgh, PA USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA Texas Childrens Hosp, Houston, TX 77030 USAPotocki, Lorraine论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USALewis, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Marcogliese, Andrea N.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Hematol & Oncol, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAElghetany, M. Tarek论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Hematol & Oncol, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAZapata, Gladys论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, USDA ARS, Childrens Nutr Res Ctr, Sect Nutr,Dept Pediat, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAHernandez, Paula P.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, USDA ARS, Childrens Nutr Res Ctr, Sect Nutr,Dept Pediat, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAGadkari, Manasi论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Immune Syst Biol, NIH, 9000 Rockville Pike,Bldg 4,Room 138, Bethesda, MD 20892 USA Texas Childrens Hosp, Houston, TX 77030 USAEinhaus, Derek论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Immune Syst Biol, NIH, 9000 Rockville Pike,Bldg 4,Room 138, Bethesda, MD 20892 USA Texas Childrens Hosp, Houston, TX 77030 USAMuzny, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USABertuch, Alison A.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Sect Hematol & Oncol, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USAScott, Daryl A.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USACorvera, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Massachusetts, Sch Med, Program Mol Med, Worcester, MA USA Texas Childrens Hosp, Houston, TX 77030 USAFranco, Luis M.论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Immune Syst Biol, NIH, 9000 Rockville Pike,Bldg 4,Room 138, Bethesda, MD 20892 USA Texas Childrens Hosp, Houston, TX 77030 USA
- [8] 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
- [9] 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
- [10] 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