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- [21] Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type IIIHAEMATOLOGICA, 2023, 108 (02) : 581 - 587Hernandez, Gonzalo论文数: 0 引用数: 0 h-index: 0机构: UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, Spain BloodGenet SL Diagnost Inherited Blood Dis, Esplugas de Llobregat, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainRomero-Cortadellas, Lidia论文数: 0 引用数: 0 h-index: 0机构: UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainFerrer-Cortes, Xenia论文数: 0 引用数: 0 h-index: 0机构: UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, Spain BloodGenet SL Diagnost Inherited Blood Dis, Esplugas de Llobregat, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainVenturi, Veronica论文数: 0 引用数: 0 h-index: 0机构: UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainDessy-Rodriguez, Mercedes论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Energet Medioambientales & Tecnol CIEM, Cell Technol Div, Biomed Innovat Unit, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Inst Invest Sanitaria Fdn Jimenez, Unidad Mixta Terapias Avanzadas, Madrid, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, Spain论文数: 引用数: h-index:机构:Husami, Ammar论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainPerez de Soto, Concepcion论文数: 0 引用数: 0 h-index: 0机构: HHUUVR, UGC HH, Hosp Univ Virgen del Rocio, Serv Pediat Hematol, Seville, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainMorales-Camacho, Rosario M.论文数: 0 引用数: 0 h-index: 0机构: Univ Seville, Hosp Univ Virgen del Rocio, Inst Biomed Sevilla IBIS CISC CIBERONC, Dept Hematol, Seville, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainVillegas, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Complutense, Hosp Clin San Carlos, Dept Hematol, Madrid, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainGonzalez-Fernandez, Fernando-Ataulfo论文数: 0 引用数: 0 h-index: 0机构: Univ Complutense, Hosp Clin San Carlos, Dept Hematol, Madrid, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainMorado, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp La Paz, Dept Hematol, Madrid, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainKalfa, Theodosia A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH USA Cincinnati Childrens Hosp Med Ctr, Div Hematol, Cincinnati, OH USA UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainQuintana-Bustamante, Oscar论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Energet Medioambientales & Tecnol CIEM, Cell Technol Div, Biomed Innovat Unit, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Inst Invest Sanitaria Fdn Jimenez, Unidad Mixta Terapias Avanzadas, Madrid, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainPerez-Montero, Santiago论文数: 0 引用数: 0 h-index: 0机构: BloodGenet SL Diagnost Inherited Blood Dis, Esplugas de Llobregat, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainTornador, Cristian论文数: 0 引用数: 0 h-index: 0机构: BloodGenet SL Diagnost Inherited Blood Dis, Esplugas de Llobregat, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainSegovia, Jose-Carlos论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Energet Medioambientales & Tecnol CIEM, Cell Technol Div, Biomed Innovat Unit, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Inst Invest Sanitaria Fdn Jimenez, Unidad Mixta Terapias Avanzadas, Madrid, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, SpainSanchez, Mayka论文数: 0 引用数: 0 h-index: 0机构: UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, Spain BloodGenet SL Diagnost Inherited Blood Dis, Esplugas de Llobregat, Spain UIC, Dept Basic Sci Iron Metab Regulat & Dis Grp, Sant Cugat Del Valles, Spain
- [22] Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (06) : 1467 - 1474Dgany, O论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelAvidan, N论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelDelaunay, J论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelKrasnov, T论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelShalmon, L论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelShalev, H论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelEidelitz-Markus, T论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelKapelushnik, J论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelCattan, D论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelPariente, A论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelTulliez, M论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelCrétien, A论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelSchischmanoff, PO论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelIolascon, A论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelFibach, E论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelKoren, A论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelRössler, J论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelLe Merrer, M论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelYaniv, I论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelZaizov, R论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelBen-Asher, E论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelOlender, T论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelLancet, D论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelBeckmann, JS论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, IsraelTamary, H论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Rabin Med Ctr, Felsenstein Res Ctr, Pediat Hematol Lab, IL-49202 Petah Tiqwa, Israel
- [23] Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.BLOOD, 2002, 100 (11) : 8A - 8ATamary, H论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelDgany, O论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelAvidan, N论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelDelaunay, J论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelKrasnov, T论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelShalmon, L论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelMarkus, TE论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelShalev, H论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelBen-Asher, E论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelOlender, T论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelYaniv, I论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, IsraelZaiziv, R论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, Israel论文数: 引用数: h-index:机构:Bechmann, JS论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Felsenstein Res Ctr, Petah Tiqwa, Israel
- [24] Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR)BLOOD, 2019, 134Niss, Omar论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USALorsbach, Robert B.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Pathol, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USABuchbinder, David K.论文数: 0 引用数: 0 h-index: 0机构: CHOC Childrens Hosp, Dept Hematol, Orange, CA USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USAChonat, Satheesh论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Atlanta, GA USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USAMcLemore, Morgan L.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Hematol & Med Oncol, Atlanta, GA 30322 USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USAMcCavit, Timothy论文数: 0 引用数: 0 h-index: 0机构: Cook Childrens Hosp, Ft Worth, TX USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USASchwartz, Jeffrey H.论文数: 0 引用数: 0 h-index: 0机构: UF Hlth Pediat Subspecialty Program Pensacola, Pensacola, FL USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USAMeznarich, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pediat, Div Hematol & Oncol, Salt Lake City, UT USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USASeu, Katie论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA Univ Cinicinnati, Cincinnati, OH USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USAZhang, Wenying论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USAKalfa, Theodosia A.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Canc & Blood Dis Inst, Cincinnati, OH 45229 USA
- [25] Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type IHAEMATOLOGICA, 2013, 98 (09) : 1383 - 1387Babbs, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandRoberts, Nigel A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandSanchez-Pulido, Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Physiol Anat & Genet, MRC Funct Genom Unit, Oxford, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandMcGowan, Simon J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MRC Weatherall Inst Mol Med, Computat Biol Res Grp, Oxford, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandAhmed, Momin R.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Dept Haematol Med, Leukaemia Genom & Bone Marrow Failure Grp, London, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandBrown, Jill M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandSabry, Mohamed A.论文数: 0 引用数: 0 h-index: 0机构: Arabian Gulf Univ, Dept Med Biochem, Coll Med & Med Sci, Manama, Bahrain Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandBentley, David R.论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge Ltd, Saffron Walden, Essex, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandMcVean, Gil A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Dept Stat, Oxford OX1 3TG, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandDonnelly, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England Univ Oxford, Dept Stat, Oxford OX1 3TG, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England论文数: 引用数: h-index:机构:Ponting, Chris P.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Dept Physiol Anat & Genet, MRC Funct Genom Unit, Oxford, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandHiggs, Douglas R.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, EnglandBuckle, Veronica J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Univ Oxford, MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England
- [26] CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II IS CAUSED BY MUTATIONS IN SEC23B GENEHAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2009, 94 : 225 - 225Bianchi, P.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ompmare, Milan, Italy Fdn IRCCS Ompmare, Milan, ItalyFermo, E.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ompmare, Milan, Italy Fdn IRCCS Ompmare, Milan, ItalyVercellati, C.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ompmare, Milan, Italy Fdn IRCCS Ompmare, Milan, ItalyBoschetti, C.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ompmare, Milan, Italy Fdn IRCCS Ompmare, Milan, ItalyBarcellini, W.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ompmare, Milan, Italy Fdn IRCCS Ompmare, Milan, ItalyZanella, A.论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ompmare, Milan, Italy Fdn IRCCS Ompmare, Milan, Italy
- [27] Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin geneCLINICAL ENDOCRINOLOGY, 2010, 72 (05) : 717 - 718Targovnik, Hector M.论文数: 0 引用数: 0 h-index: 0机构: Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, Argentina Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, ArgentinaSouchon, Pierre F.论文数: 0 引用数: 0 h-index: 0机构: CHU Reims, Amer Mem Hosp, Serv Pediat, Reims, France Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, ArgentinaMachiavelli, Gloria A.论文数: 0 引用数: 0 h-index: 0机构: Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, Argentina Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, ArgentinaSalmon-Musial, Anne S.论文数: 0 引用数: 0 h-index: 0机构: CHU Reims, Amer Mem Hosp, Serv Pediat, Reims, France Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, ArgentinaMauran, Pierre L. A.论文数: 0 引用数: 0 h-index: 0机构: CHU Reims, Amer Mem Hosp, Serv Pediat, Reims, France Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, ArgentinaSulmont, Veronique论文数: 0 引用数: 0 h-index: 0机构: CHU Reims, Amer Mem Hosp, Serv Pediat, Reims, France Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, ArgentinaDoco-Fenzy, Martine论文数: 0 引用数: 0 h-index: 0机构: CHU Reims, Serv Genet, UFR Med IFR53, Reims, France Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, ArgentinaRivolta, Carina M.论文数: 0 引用数: 0 h-index: 0机构: Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, Argentina Univ Buenos Aires, Fac Farm & Bioquim, Mol Biol Lab, Catedra Genet & Biol Mol, RA-1113 Buenos Aires, DF, Argentina
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