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- [31] The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammationNATURE IMMUNOLOGY, 2017, 18 (08) : 832 - 842Manthiram, Kalpana论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Inflammatory Dis Sect, Metab Cardiovasc & Inflammatory Dis Genom Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA NHGRI, Inflammatory Dis Sect, Metab Cardiovasc & Inflammatory Dis Genom Branch, US Natl Inst Hlth, Bethesda, MD 20892 USAZhou, Qing论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Inflammatory Dis Sect, Metab Cardiovasc & Inflammatory Dis Genom Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA NHGRI, Inflammatory Dis Sect, Metab Cardiovasc & Inflammatory Dis Genom Branch, US Natl Inst Hlth, Bethesda, MD 20892 USAAksentijevich, Ivona论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Inflammatory Dis Sect, Metab Cardiovasc & Inflammatory Dis Genom Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA NHGRI, Inflammatory Dis Sect, Metab Cardiovasc & Inflammatory Dis Genom Branch, US Natl Inst Hlth, Bethesda, MD 20892 USAKastner, Daniel L.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Inflammatory Dis Sect, Metab Cardiovasc & Inflammatory Dis Genom Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA NHGRI, Inflammatory Dis Sect, Metab Cardiovasc & Inflammatory Dis Genom Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA
- [32] The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammationNATURE IMMUNOLOGY, 2017, 18 (11) : 1271 - 1271Manthiram, Kalpana论文数: 0 引用数: 0 h-index: 0Zhou, Qing论文数: 0 引用数: 0 h-index: 0Aksentijevich, Ivona论文数: 0 引用数: 0 h-index: 0Kastner, Daniel L.论文数: 0 引用数: 0 h-index: 0
- [33] The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammationNature Immunology, 2017, 18 : 832 - 842Kalpana Manthiram论文数: 0 引用数: 0 h-index: 0机构: Inflammatory Disease Section,Qing Zhou论文数: 0 引用数: 0 h-index: 0机构: Inflammatory Disease Section,Ivona Aksentijevich论文数: 0 引用数: 0 h-index: 0机构: Inflammatory Disease Section,Daniel L Kastner论文数: 0 引用数: 0 h-index: 0机构: Inflammatory Disease Section,
- [34] The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseasesFRONTIERS IN MEDICINE, 2022, 9论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Tufan, Abdurrahman论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Div Rheumatol, Dept Internal Med, Ankara, Turkey Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, Italy论文数: 引用数: h-index:机构:Aragona, Emma论文数: 0 引用数: 0 h-index: 0机构: Osped Riuniti Villa Sofia Vincenzo Cervello, Div Gastroenterol, Palermo, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyWiesik-Szewczyk, Ewa论文数: 0 引用数: 0 h-index: 0机构: Cent Clin Hosp Minist Natl Def, Mil Inst Med, Dept Intenal Med Pulmonol Allergy & Clin Immunol, Warsaw, Poland Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyAit-Idir, Djouher论文数: 0 引用数: 0 h-index: 0机构: MHamed Bougara Univ, Fac Sci, Res Lab Biodivers Biotechnol Environm & Sustainab, Dept Biol, Boumerdes, Algeria Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyConti, Giovanni论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ AOU Martino G Martino, Pediat Nephrol & Rheumatol Unit, Messina, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyIezzi, Ludovica论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, Dept Life Sci & Global Hlth, Rome, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyMaggio, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Palermo, Univ Dept Hlth Promot, Mother & Child Care, Internal Med & Med Specialties PROMISE G Alessand, Palermo, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, Italy论文数: 引用数: h-index:机构:Torre, Francesco La论文数: 0 引用数: 0 h-index: 0机构: Univ Bari, Giovanni Pediatr Hosp 23, Pediat Rheumatol Ctr, Dept Pediat, Bari, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyLopalco, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Bari, Dept Emergency & Organ Transplantat, Rheumatol Unit, Bari, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyVerrecchia, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Rare Dis & Period Fevers Res Ctr, Rome, Italy Fdn Policlin Univ Agostino Gemelli Ist Ricovero, Dept Aging Neurol Orthoped & Head & Neck Sci, Rome, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, Italy论文数: 引用数: h-index:机构:Sahin, Ali论文数: 0 引用数: 0 h-index: 0机构: Sivas Cumhuriyet Univ, Med Fac, Dept Internal Med, Div Rheumatol, Sivas, Turkey Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyInsalaco, Antonella论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, Autoinflammatory & Autoimmune Dis R Ctr, Div Rheumatol, IRCCS European Reference Network ERN Rare Immunod, Rome, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalySfikakis, Petros P.论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, Joint Acad Rheumatol Program, Athens, Greece Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyMarino, Achille论文数: 0 引用数: 0 h-index: 0机构: ASST Gaetano Pini Ctr Specialist Ortoped Traumato, Unit Pediat Rheumatol, Azienda Socio Sanit Territoriale, Milan, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyFrassi, Micol论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia, Dept Clin & Expt Sci, Rheumatol & Clin Immunol, Spedali Civili, Brescia, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyOgunjimi, Benson论文数: 0 引用数: 0 h-index: 0机构: Antwerp Univ Hosp, Dept Pediat, Edegem, Belgium Univ Antwerp, Vaccine & Infect Dis Inst VAXINFECTIO, Ctr Hlth Econ Res & Modeling Infect Dis, Antwerp, Belgium Ziekenhuis Netwerk Antwerpen, Dept Rheumatol, Antwerp, Belgium Universitair Ziekenhuis Brussel, KidZ Hlth Castle, Jette, Belgium Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyOpris-Belinski, Daniela论文数: 0 引用数: 0 h-index: 0机构: Carol Davila Univ Med & Pharm, Rheumatol & Internal Med Dept, Bucharest, Romania Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyParronchi, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Dept Expt & Clin Med, Florence, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Ciccia, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Precis Med, Naples, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyPiga, Matteo论文数: 0 引用数: 0 h-index: 0机构: Univ & AOU Cagliari, Dept Med Sci, Rheumatol Unit, Cagliari, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyHernandez-Rodriguez, Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Hosp Clin Barcelona, August Pi I Sunyer Biomed Res Inst IDIBAPS,Dept A, Vasculitis Res Unit,Autoinflammat Dis Clin Unit, Barcelona, Spain Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyPereira, Rosa Maria R.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Fac Med Univ Sao Paulo HCFMUSP, Fac Med, Rheumatol Div, Sao Paulo, Brazil Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyAlessio, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Translat Med Sci, Pediat Rheumatol Unit, Naples, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyNaddei, Roberta论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Translat Med Sci, Pediat Rheumatol Unit, Naples, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyOlivieri, Alma Nunzia论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Woman, Child & Gen & Specialized Surg, Naples, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyGiudice, Emanuela Del论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ Rome, Dept Maternal Infantile & Urol Sci, Rome, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalySfriso, Paolo论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med DIMED, Rheumatol Unit, Padua, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyRuscitti, Piero论文数: 0 引用数: 0 h-index: 0机构: Univ Aquila, Dept Biotechnol & Appl Clin Sci, Rheumatol Unit, Laquila, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyGobbi, Francesca Li论文数: 0 引用数: 0 h-index: 0机构: San Giovanni Dio Hosp, Rheumatol Unit, Florence, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyKucuk, Hamit论文数: 0 引用数: 0 h-index: 0机构: Gazi Univ, Fac Med, Div Rheumatol, Dept Internal Med, Ankara, Turkey Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, Italy论文数: 引用数: h-index:机构:Hussein, Mohamed A.论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Fac Med, Internal Med Dept, Rheumatol & Clin Immunol Unit, Giza, Egypt Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyMalizia, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Osped Riuniti Villa Sofia Vincenzo Cervello, Div Gastroenterol, Palermo, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyJahnz-Rozyk, Karina论文数: 0 引用数: 0 h-index: 0机构: Cent Clin Hosp Minist Natl Def, Mil Inst Med, Dept Intenal Med Pulmonol Allergy & Clin Immunol, Warsaw, Poland Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalySari-Hamidou, Rawda论文数: 0 引用数: 0 h-index: 0机构: Abou Bekr Belkaid Univ, Fac Med, Res Lab Toxicomed, Tilimsen, Algeria Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyRomeo, Mery论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Univ AOU Martino G Martino, Pediat Nephrol & Rheumatol Unit, Messina, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyRicci, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia & Spedali Civili Brescia, Pediat Clin, Brescia, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, Italy论文数: 引用数: h-index:机构:Iannone, Florenzo论文数: 0 引用数: 0 h-index: 0机构: Univ Bari, Dept Emergency & Organ Transplantat, Rheumatol Unit, Bari, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, Italy论文数: 引用数: h-index:机构:Natale, Marco Francesco论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, Autoinflammatory & Autoimmune Dis R Ctr, Div Rheumatol, IRCCS European Reference Network ERN Rare Immunod, Rome, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyLaskari, Katerina论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, Joint Acad Rheumatol Program, Athens, Greece Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, ItalyGiani, Teresa论文数: 0 引用数: 0 h-index: 0机构: ASST Gaetano Pini Ctr Specialist Ortoped Traumato, Unit Pediat Rheumatol, Azienda Socio Sanit Territoriale, Milan, Italy Univ Siena, Res Ctr System Autores Ctr System AutoResearch, Dept Med Sci Surg & Neurosci, Siena, Italy
- [35] Monogenic Kidney Diseases in Kidney TransplantationKIDNEY INTERNATIONAL REPORTS, 2024, 9 (03): : 549 - 568Gillion, Valentine论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Dept Nephrol, Brussels, Belgium Catholic Univ Louvain, Inst Rech Experimentale & Clin, Brussels, Belgium Clin Univ St Luc, Nephrol Dept, Ave Hippocrate, B-1200 Brussels, Belgium Clin Univ St Luc, Dept Nephrol, Brussels, BelgiumDevresse, Arnaud论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Dept Nephrol, Brussels, Belgium Catholic Univ Louvain, Inst Rech Experimentale & Clin, Brussels, Belgium Catholic Univ Louvain, Univ Clin St Luc, Surg & Abdominal Transplant Unit, Brussels, Belgium Clin Univ St Luc, Dept Nephrol, Brussels, BelgiumOlinger, Eric论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Ctr Human Genet, Brussels, Belgium Clin Univ St Luc, Dept Nephrol, Brussels, BelgiumDahlqvist, Geraldine论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Liver Transplant Unit, Brussels, Belgium Clin Univ St Luc, Dept Nephrol, Brussels, BelgiumDemoulin, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Dept Nephrol, Brussels, Belgium Catholic Univ Louvain, Inst Rech Experimentale & Clin, Brussels, Belgium Clin Univ St Luc, Dept Nephrol, Brussels, BelgiumGodefroid, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ Louvain, Inst Rech Experimentale & Clin, Brussels, Belgium Clin Univ St Luc, Dept Pediat Nephrol, Brussels, Belgium Clin Univ St Luc, Dept Nephrol, Brussels, BelgiumClaes, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Nephrol & Renal Transplantat, Leuven, Belgium Clin Univ St Luc, Dept Nephrol, Brussels, BelgiumDevuyst, Olivier论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Dept Nephrol, Brussels, Belgium Catholic Univ Louvain, Inst Rech Experimentale & Clin, Brussels, Belgium Univ Zurich, Inst Physiol, Zurich, Switzerland Clin Univ St Luc, Dept Nephrol, Brussels, BelgiumKanaan, Nada论文数: 0 引用数: 0 h-index: 0机构: Clin Univ St Luc, Dept Nephrol, Brussels, Belgium Catholic Univ Louvain, Inst Rech Experimentale & Clin, Brussels, Belgium Clin Univ St Luc, Dept Nephrol, Brussels, Belgium
- [36] DNA Methylation in the Diagnosis of Monogenic DiseasesGENES, 2020, 11 (04)Cerrato, Flavia论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalySparago, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyAriani, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Genet Med, I-53100 Siena, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyBrugnoletti, Fulvia论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, UOC Genet Med, I-00168 Rome, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Ist Med Genom, I-00168 Rome, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyCalzari, Luciano论文数: 0 引用数: 0 h-index: 0机构: Ist Auxol Italiano, Ctr Ric Tecnol Biomed IRCCS, Lab Citogenet Med & Genet Mol, I-20149 Milan, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyCoppede, Fabio论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, Lab Genet Med, Dipartimento Ric Traslaz & Nuove Tecnol Med & Chi, I-56126 Pisa, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyDe Luca, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, Italy论文数: 引用数: h-index:机构:Giardina, Emiliano论文数: 0 引用数: 0 h-index: 0机构: Fdn Santa Lucia, Lab Med Genom UILDM, I-00179 Rome, Italy Univ Roma Tor Vergata, Dipartimento Biomed & Prevenz, I-00133 Rome, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyGurrieri, Fiorella论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, UOC Genet Med, I-00168 Rome, Italy Univ Campus Biomed, Genet Med, I-00128 Rome, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyLo Nigro, Cristiana论文数: 0 引用数: 0 h-index: 0机构: EO Osped Galliera, Lab Cent, I-16128 Genoa, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyMerla, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyMiozzo, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dipartimento Fisiopatol Medicochirurg & Trapianti, Genet Med, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, I-20122 Milan, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyRusso, Silvia论文数: 0 引用数: 0 h-index: 0机构: Ist Auxol Italiano, Ctr Ric Tecnol Biomed IRCCS, Lab Citogenet Med & Genet Mol, I-20149 Milan, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalySangiorgi, Eugenio论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Univ A Gemelli IRCCS, UOC Genet Med, I-00168 Rome, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Ist Med Genom, I-00168 Rome, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalySirchia, Silvia M.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dipartimento Sci Salute, Genet Med, I-20146 Milan, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalySqueo, Gabriella Maria论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyTabano, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, Dipartimento Fisiopatol Medicochirurg & Trapianti, Genet Med, I-20122 Milan, Italy Univ Milan, Fdn IRCCS Ca Granda Osped Maggiore Policlin, I-20122 Milan, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyTabolacci, Elisabetta论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Ist Med Genom, I-00168 Rome, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyTorrente, Isabella论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Casa Sollievo Sofferenza, Div Med Genet, I-71013 Foggia, Italy Univ Campania Luigi Vanvitelli, Dipartimento Sci Tecnol Ambientali & Biol & Farma, I-81100 Caserta, ItalyGenuardi, Maurizio论文数: 0 引用数: 0 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- [37] Monogenic renal diseases:: A clinical introductionJOURNAL OF NEPHROLOGY, 2002, 15 : S43 - S46Grünfeld, JP论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Serv Nephrol, Hop Necker, F-75743 Paris 15, France Univ Paris 05, Serv Nephrol, Hop Necker, F-75743 Paris 15, France
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