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- [1] A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiencyANDROLOGIA, 2017, 49 (01)Tuhan, H.论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, TurkeyAnik, A.论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, TurkeyCatli, G.论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, TurkeyOnay, H.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Sch Med, Dept Med Genet, Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, Turkey论文数: 引用数: h-index:机构:Abaci, A.论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, TurkeyBober, E.论文数: 0 引用数: 0 h-index: 0机构: Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, Turkey Dokuz Eylul Univ, Sch Med, Dept Pediat Endocrinol, Izmir, Turkey
- [2] Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46, XY disorders of sex developmentEUROPEAN JOURNAL OF ENDOCRINOLOGY, 2014, 170 (05) : 759 - 767Tantawy, Sally论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany Natl Res Ctr, Dept Clin Genet, Cairo, Egypt Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyMazen, Inas论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Cairo, Egypt Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanySoliman, Hala论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Med Mol Genet, Div Human Genet & Genome Res, Cairo, Egypt Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany论文数: 引用数: h-index:机构:Atef, Abeer论文数: 0 引用数: 0 h-index: 0机构: Cairo Univ, Dept Paediat, Cairo, Egypt Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyEl-Gammal, Mona论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Cairo, Egypt Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyEl-Kotoury, Ahmed论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Cairo, Egypt Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyMekkawy, Mona论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Div Human Genet & Genome Res, Dept Cytogenet, Cairo, Egypt Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyTorky, Ahmad论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Dept Clin Genet, Cairo, Egypt Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyRudolf, Agnes论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanySchrumpf, Pamela论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyGrueters, Annette论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyKrude, Heiko论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyDumargne, Marie-Charlotte论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Paris, France Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyAstudillo, Rebekka论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyBashamboo, Anu论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Paris, France Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyBiebermann, Heike论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, GermanyKoehler, Birgit论文数: 0 引用数: 0 h-index: 0机构: Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany Humboldt Univ, Charite, Univ Childrens Hosp, Inst Expt Paediat Endocrinol, D-10099 Berlin, Germany
- [3] Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1FERTILITY AND STERILITY, 2006, 85 (03) : 787 - 790Wada, Y论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, JapanOkada, M论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, JapanFukami, M论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, JapanSasagawa, I论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, JapanOgata, T论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, Japan Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, Japan
- [4] Phenotype variability of NR5A1 (SF1) gene mutations in DSD patientsEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 39 - 40Chernykh, V. B.论文数: 0 引用数: 0 h-index: 0机构: Res Ctr Med Genet, Moscow, Russia Res Ctr Med Genet, Moscow, RussiaRaygorodskaya, N. Y.论文数: 0 引用数: 0 h-index: 0机构: Saratov State Med Univ, Saratov, Russia Res Ctr Med Genet, Moscow, RussiaBolotova, N. V.论文数: 0 引用数: 0 h-index: 0机构: Saratov State Med Univ, Saratov, Russia Res Ctr Med Genet, Moscow, RussiaPaltseva, J. V.论文数: 0 引用数: 0 h-index: 0机构: Saratov State Med Univ, Clin Hosp, Saratov, Russia Res Ctr Med Genet, Moscow, Russia
- [5] Three Cases of NR5A1 (SF1) Gene Mutations in DSD PatientsHORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 278 - 278Raygorodskaya, Nadezda论文数: 0 引用数: 0 h-index: 0机构: Med Univ Saratov, Saratov, Russia Med Univ Saratov, Saratov, RussiaBolotova, Nina论文数: 0 引用数: 0 h-index: 0机构: Med Univ Saratov, Saratov, Russia Med Univ Saratov, Saratov, RussiaKolodkina, Anna论文数: 0 引用数: 0 h-index: 0机构: Endocrinol Res Ctr, Moscow, Russia Med Univ Saratov, Saratov, RussiaDronova, Elena论文数: 0 引用数: 0 h-index: 0机构: Med Univ Saratov, Saratov, Russia Med Univ Saratov, Saratov, Russia
- [6] Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1ENDOCRINE JOURNAL, 2005, 52 (04) : 445 - 448Wada, Y论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, JapanOkada, M论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, JapanHasegawa, T论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, JapanOgata, T论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Dept Endocrinol & Metab, Tokyo 1578535, Japan
- [7] Uncovering the role of the SF-1/NR5A1 p.Gly146Ala variant for the phenotype of DSD patientsHORMONE RESEARCH IN PAEDIATRICS, 2023, 96 (SUPPL 2): : 39 - 39Martinez de lapiscina, Idoia论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, Switzerland Univ Basque Country UPV EHU, Res Genet & Control Diabet & Other Endocrine Diso, Biocruces Bizkaia Hlth Res Inst, Cruces Univ Hosp,CIBERDEM,CIBERER,ISCIII,Endo ERN, Baracaldo, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandKouri, Chrysanthi论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Pediat Endocrinol Diabetol & Metab, Grad Sch Cellular & Biomed Sci,Bern Univ Hosp, Dept BioMed Res,Dept Pediat,Inselspital, Bern, Switzerland Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandAurrekoetxea, Josu论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country UPV EHU, Cruces Univ Hosp, Biocruces Bizkaia Hlth Res Inst, Res Grp Med Oncol, Baracaldo, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandSanchez, Mirian论文数: 0 引用数: 0 h-index: 0机构: Cruces Univ Hosp, Biocruces Bizkaia Hlth Res Inst, Res Genet & Control Diabet & Other Endocrine Di, Baracaldo, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandNaamneh, Rawda论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Pediat Endocrinol Diabetol & Metab, Grad Sch Cellular & Biomed Sci,Bern Univ Hosp, Dept BioMed Res,Dept Pediat,Inselspital, Bern, Switzerland Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandSommer, Grit论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, Switzerland Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandSauter, Kay论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, Switzerland Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandCamats, Nuria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall Hebron, Vall Hebron Res Inst VHIR, Growth & Dev Grp, CIBERER,ISCIII, Barcelona, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandGrau, Gema论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country UPV EHU, Biocruces Bizkaia Hlth Res Inst, Cruces Univ Hosp,Res Genet & Control Diabet & Oth, Dept Pediat Endocrinol,CIBERDEM,CIBERER,ISCIII,En, Baracaldo, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandRica, Itxaso论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country UPV EHU, Biocruces Bizkaia Hlth Res Inst, Cruces Univ Hosp,Res Genet & Control Diabet & Oth, Dept Pediat Endocrinol,CIBERDEM,CIBERER,ISCIII,En, Baracaldo, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandRodriguez, Amaia论文数: 0 引用数: 0 h-index: 0机构: Cruces Univ Hosp, Biocruces Bizkaia Hlth Res Inst, Dept Pediat Endocrinol, Res Genet & Control Diabet & Other Endocrine Diso, Baracaldo, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandVela, Amaia论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country UPV EHU, Biocruces Bizkaia Hlth Res Inst, Cruces Univ Hosp,Res Genet & Control Diabet & Oth, Dept Pediat Endocrinol,CIBERDEM,CIBERER,ISCIII,En, Baracaldo, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandCortazar, Alicia论文数: 0 引用数: 0 h-index: 0机构: Cruces Univ Hosp, Endocrinol Dept, CIBERDEM, ISCIII, Baracaldo, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandAlonso, M. Concepcion论文数: 0 引用数: 0 h-index: 0机构: Princesa Univ Hosp, Madrid, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandBahillo, Pilar论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Valladolid, Dept Pediat, Valladolid, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandBerthod, Laura论文数: 0 引用数: 0 h-index: 0机构: Marques Valdecilla Univ Hosp, Pediat Endocrinol Dept, Santander, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandEsteva, Isabel论文数: 0 引用数: 0 h-index: 0机构: Reg Univ Hosp Malaga, Endocrinol Sect, Gender Ident Unit, Malaga, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandCastano, Luis论文数: 0 引用数: 0 h-index: 0机构: Univ Basque Country UPV EHU, Biocruces Bizkaia Hlth Res Inst, Cruces Univ Hosp,Res Genet & Control Diabet & Oth, Dept Pediat Endocrinol,CIBERDEM,CIBERER,ISCIII,En, Baracaldo, Spain Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, SwitzerlandFluck, Christa E.论文数: 0 引用数: 0 h-index: 0机构: Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, Switzerland Univ Bern, Bern Univ Hosp, Pediat Endocrinol Diabetol & Metab, Dept Pediat,Dept BioMed Res,Inselspital, Bern, Switzerland
- [8] Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including HypospadiasPLOS ONE, 2011, 6 (10):Allali, Slimane论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Fac Med, Le Kremlin Bicetre, France Hop Bicetre, AP HP, Unite Endocrinol, Le Kremlin Bicetre, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceMuller, Jean-Baptiste论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Fac Med, Le Kremlin Bicetre, France Hop Bicetre, AP HP, Unite Endocrinol, Le Kremlin Bicetre, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceBrauner, Raja论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Fac Med, Le Kremlin Bicetre, France Hop Bicetre, AP HP, Unite Endocrinol, Le Kremlin Bicetre, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceLourenco, Diana论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Paris, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceBoudjenah, Radia论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Paris, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceKarageorgou, Vasiliki论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Paris, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceTrivin, Christine论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Serv Explorat Fonct, Paris, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceLottmann, Henri论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Serv Chirurg Viscerale Pediat, Paris, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceLortat-Jacob, Stephen论文数: 0 引用数: 0 h-index: 0机构: Hop Necker Enfants Malad, AP HP, Serv Chirurg Viscerale Pediat, Paris, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceNihoul-Fekete, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Paris, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceDe Dreuzy, Olivier论文数: 0 引用数: 0 h-index: 0机构: Hop Bicetre, AP HP, Serv Chirurg Pediat, Le Kremlin Bicetre, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceMcElreavey, Ken论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Paris, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, FranceBashamboo, Anu论文数: 0 引用数: 0 h-index: 0机构: Inst Pasteur, Paris, France Univ Paris 05, Fac Med, Le Kremlin Bicetre, France
- [9] New steroidogenic factor 1 (SF1) gene mutation. An extreme phenotypic variation was present in two siblings with a 46 XY disorder of sexual development (DSD), and normal adrenal functionHORMONE RESEARCH, 2008, 70 : 9 - 10Costanzo, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaWarman, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaMarino, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaGaleano, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaCiaccio, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaBerensztein, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaBailez, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Cirugia, Buenos Aires, DF, Argentina Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaRivarola, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, ArgentinaBelgorosky, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina Hosp Pediat JP Garrahan, Serv Endocrinol, Buenos Aires, DF, Argentina
- [10] In-silico Gene-protein Analysis and Clinical Phenotype Characterisation of Three Novel NR5A1/SF1 Gene Mutations Presenting with 46, XY DSDHORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 559 - 559Cuccaro, Rieko Tadokoro论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Paediat, Cambridge, England Univ Cambridge, Dept Paediat, Cambridge, England论文数: 引用数: h-index:机构:Hendriks, A. Emile J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Paediat, Cambridge, England Univ Cambridge, Dept Paediat, Cambridge, EnglandAlvi, Sabah论文数: 0 引用数: 0 h-index: 0机构: Gen Infirm, Paediat & Adolescent Endocrine Clin Unit, Leeds, W Yorkshire, England Univ Cambridge, Dept Paediat, Cambridge, EnglandArmstrong, Ruth论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Clin Genet, Cambridge, England Univ Cambridge, Dept Paediat, Cambridge, EnglandBruty, Jonathan论文数: 0 引用数: 0 h-index: 0机构: East Anglian Med Genet Serv, Cambridge, England Univ Cambridge, Dept Paediat, Cambridge, EnglandHughes, Ieuan A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Paediat, Cambridge, England Univ Cambridge, Dept Paediat, Cambridge, EnglandAcerini, Carlo L.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Paediat, Cambridge, England Univ Cambridge, Dept Paediat, Cambridge, England