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- [21] Clinical and functional consequences of GRIA variants in patients with neurological diseasesCELLULAR AND MOLECULAR LIFE SCIENCES, 2023, 80 (11)XiangWei, Wenshu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Pediat Epilepsy Ctr, Beijing, Peoples R China Emory Univ, Sch Med, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaPerszyk, Riley E.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaLiu, Nana论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Pediat Epilepsy Ctr, Beijing, Peoples R China Emory Univ, Sch Med, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaXu, Yuchen论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Wenzhou Med Univ, Hosp 1, Dept Neurol, Wenzhou 325000, Zhejiang, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaBhattacharya, Subhrajit论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Claremont Coll, Keck Grad Inst, Sch Pharmaceut & Hlth Sci, Claremont, CA 91711 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaShaulsky, Gil H.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Emory Univ, Sch Med, Ctr Funct Evaluat Rare Variants, Atlanta, GA 30322 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China论文数: 引用数: h-index:机构:Fatemi, Ali论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21287 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaFry, Andrew E.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Wales, Inst Med Genet, Cardiff CF14 4XW, Wales Cardiff Univ, Div Canc & Genet, Cardiff CF14 4XN, Wales Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaChandler, Kate论文数: 0 引用数: 0 h-index: 0机构: Manchester Univ NHS Fdn Trust, St Marys Hosp, Manchester Ctr Genom Med MCGM, Oxford Rd, Manchester M13 9WL, England Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaWang, Tao论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Pediat, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaVogt, Julie论文数: 0 引用数: 0 h-index: 0机构: Birmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Genet Serv, Birmingham B4 6NH, England Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaCohen, Julie S.论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Neurol & Dev Med, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21287 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaPaciorkowski, Alex R.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Child Neurol, 601 Elmwood Ave, Rochester, NY 14642 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaPoduri, Annapurna论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Neurol, Epilepsy Genet Program, Boston, MA 02115 USA Harvard Med Sch, Dept Neurol, Boston, MA 02115 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaZhang, Yuehua论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Pediat Epilepsy Ctr, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaWang, Shuang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Pediat Epilepsy Ctr, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaWang, Yuping论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Inst Sleep & Consciousness Disorders, Beijing Key Lab Neuromodulat,Xuanwu Hosp, Dept Neurol,Ctr Epilepsy,Beijing Inst Brain Disor, Beijing 100053, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaZhai, Qiongxiang论文数: 0 引用数: 0 h-index: 0机构: Guangdong Acad Med Sci, Guangdong Prov Peoples Hosp, Dept Pediat, Guangzhou, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaFang, Fang论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Dept Neurol, Natl Ctr Childrens Hlth, Beijing 100069, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaLeng, Jie论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Henan Childrens Hosp, Zhengzhou Childrens Hosp, Dept Neurol,Childrens Hosp, Zhengzhou 450066, Henan, Peoples R China Univ Elect Sci & Technol China, Chengdu Womens & Childrens Cent Hosp, Dept Endocrinol Genet & Metab, Sch Med, Chengdu, Sichuan, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaGarber, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaMyers, Scott J.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Emory Univ, Sch Med, Ctr Funct Evaluat Rare Variants, Atlanta, GA 30322 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaJauss, Robin-Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany Univ Leipzig, Med Ctr, Ctr Rare Dis, Leipzig, Germany Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaPark, Kristen L.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Dept Pediat, Aurora, CO USA Univ Colorado, Sch Med, Dept Neurol, Aurora, CO USA Childrens Hosp Colorado, Aurora, CO USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaBenke, Timothy A.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Dept Pediat, Aurora, CO USA Univ Colorado, Sch Med, Dept Neurol, Aurora, CO USA Childrens Hosp Colorado, Aurora, CO USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaLemke, Johannes R.论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Inst Human Genet, Leipzig, Germany Univ Leipzig, Med Ctr, Ctr Rare Dis, Leipzig, Germany Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaYuan, Hongjie论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Emory Univ, Sch Med, Ctr Funct Evaluat Rare Variants, Atlanta, GA 30322 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaJiang, Yuwu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China Peking Univ First Hosp, Pediat Epilepsy Ctr, Beijing, Peoples R China Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R ChinaTraynelis, Stephen F.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Pharmacol & Chem Biol, Atlanta, GA 30322 USA Emory Univ, Sch Med, Ctr Funct Evaluat Rare Variants, Atlanta, GA 30322 USA Emory Univ, Sch Med, Emory Neurodegenerat Dis Ctr, Atlanta, GA 30322 USA Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China
- [22] Efficacy and Safety of Growth Hormone (GH) Therapy in Patients with SHOX Gene VariantsCHILDREN-BASEL, 2025, 12 (03):Sodero, Giorgio论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, Italy Perrino Hosp, Pediat Dept, I-72100 Brindisi, Italy Perrino Hosp, Pediat Endocrinol Unit, I-72100 Brindisi, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, ItalyArzilli, Federica论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, ItalyMalavolta, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, ItalyLezzi, Marilea论文数: 0 引用数: 0 h-index: 0机构: Perrino Hosp, Pediat Dept, I-72100 Brindisi, Italy Perrino Hosp, Pediat Endocrinol Unit, I-72100 Brindisi, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, ItalyComes, Fabio论文数: 0 引用数: 0 h-index: 0机构: Perrino Hosp, Pediat Dept, I-72100 Brindisi, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, ItalyVillirillo, Antonietta论文数: 0 引用数: 0 h-index: 0机构: Perrino Hosp, Pediat Dept, I-72100 Brindisi, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, ItalyRigante, Donato论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, Italy Univ Cattolica Sacro Cuore, Period Fever & Rare Dis Res Ctr, I-00168 Rome, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, ItalyCipolla, Clelia论文数: 0 引用数: 0 h-index: 0机构: Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, Italy Univ Cattolica Sacro Cuore, Fdn Policlin Univ A Gemelli IRCCS, Inst Pediat, Dept Life Sci & Publ Hlth, Largo Francesco Vito 1, I-00168 Rome, Italy
- [23] Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classificationBLOOD, 2021, 138 (22) : 2185 - 2201Martin Merinero, Hector论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol Margarita Salas, CSIC, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Ctr Invest Biol Margarita Salas, CSIC, Madrid, SpainZhang, Yuzhou论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Mol Otolaryngol & Renal Res Labs, 285 Newton Rd,5270 CBRB, Iowa City, IA 52242 USA Ctr Invest Biol Margarita Salas, CSIC, Madrid, SpainArjona, Emilia论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol Margarita Salas, CSIC, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Ctr Invest Biol Margarita Salas, CSIC, Madrid, SpainDel Angel, Guillermo论文数: 0 引用数: 0 h-index: 0机构: Alex Pharmaceut Inc, Boston, MA USA Ctr Invest Biol Margarita Salas, CSIC, Madrid, SpainGoodfellow, Renee论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Mol Otolaryngol & Renal Res Labs, 285 Newton Rd,5270 CBRB, Iowa City, IA 52242 USA Ctr Invest Biol Margarita Salas, CSIC, Madrid, SpainGomez-Rubio, Elena论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol Margarita Salas, CSIC, Madrid, Spain Ctr Invest Biol Margarita Salas, CSIC, Madrid, SpainJi, Rui-Ru论文数: 0 引用数: 0 h-index: 0机构: Alex Pharmaceut Inc, Boston, MA USA Ctr Invest Biol Margarita Salas, CSIC, Madrid, SpainMichelena, Malkoa论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol Margarita Salas, CSIC, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Ctr Invest Biol Margarita Salas, CSIC, Madrid, SpainSmith, Richard J. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Carver Coll Med, Mol Otolaryngol & Renal Res Labs, 285 Newton Rd,5270 CBRB, Iowa City, IA 52242 USA Ctr Invest Biol Margarita Salas, CSIC, Madrid, SpainRodriguez de Cordoba, Santiago论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biol Margarita Salas, CSIC, Madrid, Spain Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain Ctr Invest Biol Margarita Salas, CSIC, Madrid, Spain
- [24] Phenotypic characterization of patients with deletions in the 3′-flanking SHOX regionPEERJ, 2013, 1Kant, Sarina G.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, NetherlandsBroekman, Sander J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, CHCG Lab Diagnost Genome Anal, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, Netherlandsde Wit, Caroline C.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, CHCG Lab Diagnost Genome Anal, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, NetherlandsBos, Marloes论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, NetherlandsScheltinga, Sitha A.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, CHCG Lab Diagnost Genome Anal, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, NetherlandsBakker, Egbert论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, CHCG Lab Diagnost Genome Anal, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, Netherlands论文数: 引用数: h-index:机构:van der Kamp, Hetty J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, Netherlandsvan Zwet, Erik W.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Med Stat, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, Netherlandsvan der Hout, Annemieke H.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, NetherlandsWit, Jan M.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Pediat, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, NetherlandsLosekoot, Monique论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, CHCG Lab Diagnost Genome Anal, Leiden, Netherlands Leiden Univ, Med Ctr, CHCG Dept Clin Genet, Leiden, Netherlands
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- [26] Clinical and Biochemical Characterization of Patients with Functional HypercortisolemiaHORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 2): : 82 - 83Flippo, Chelsi论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USATatsi, Christina论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, NIH, Bethesda, MD USA NIH, Bldg 10, Bethesda, MD 20892 USAStratakis, Constantine A.论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver Natl Inst Child Hlth, Sect Endocrinol & Genet, Bethesda, MD USA NIH, Bldg 10, Bethesda, MD 20892 USA
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