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- [1] MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndromeJOURNAL OF MEDICAL GENETICS, 2019, 56 (06) : 388 - 395Kato, Kohji论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan Nagoya Univ, Grad Sch Med, Dept Pediat, Nagoya, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanMiya, Fuyuki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Med Res Inst, Dept Med Sci Math, Tokyo, Japan Ctr Integrat Med Sci, Lab Med Sci Math, Tokyo, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanHamada, Nanako论文数: 0 引用数: 0 h-index: 0机构: Aichi Human Serv Ctr, Inst Dev Res, Dept Mol Neurobiol, Kasugai, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanNegishi, Yutaka论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanNarumi-Kishimoto, Yoko论文数: 0 引用数: 0 h-index: 0机构: Shimada Ryoiku Ctr Hachiouji, Dept Pediat, Tokyo, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanOzawa, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Shimada Ryoiku Ctr Hachiouji, Dept Pediat, Tokyo, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanIto, Hidenori论文数: 0 引用数: 0 h-index: 0机构: Aichi Human Serv Ctr, Inst Dev Res, Dept Mol Neurobiol, Kasugai, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan论文数: 引用数: h-index:机构:Hattori, Ayako论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanOkamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Med Genet, Osaka, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanKato, Mitsuhiro论文数: 0 引用数: 0 h-index: 0机构: Showa Univ, Sch Med, Dept Pediat, Tokyo, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanTsunoda, Tatsuhiko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Med Res Inst, Dept Med Sci Math, Tokyo, Japan Ctr Integrat Med Sci, Lab Med Sci Math, Tokyo, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanKanemura, Yonehiro论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org, Osaka Natl Hosp, Inst Clin Res, Div Biomed Res & Innovat, Osaka, Japan Natl Hosp Org, Osaka Natl Hosp, Dept Neurosurg, Osaka, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanKosaki, Kenjiro论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Sch Med, Ctr Med Genet, Tokyo, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan论文数: 引用数: h-index:机构:Nagata, Koh-ichi论文数: 0 引用数: 0 h-index: 0机构: Aichi Human Serv Ctr, Inst Dev Res, Dept Mol Neurobiol, Kasugai, Aichi, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, JapanSaitoh, Shinji论文数: 0 引用数: 0 h-index: 0机构: Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan Nagoya City Univ, Grad Sch Med Sci, Dept Pediat & Neonatol, Nagoya, Aichi 4678601, Japan
- [2] Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodAMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (02) : 267 - 273Edvardson, Simon论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Pediat Neurol Unit, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelNicolae, Claudia M.论文数: 0 引用数: 0 h-index: 0机构: Penn State Univ, Coll Med, Dept Biochem & Mol Biol, Hershey, PA 17033 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelAgrawal, Pankaj B.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Newborn Med, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelMignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Dept Genet, Ctr Reference Deficiences Intellectuelles Causes, F-75013 Paris, France Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelPayne, Katelyn论文数: 0 引用数: 0 h-index: 0机构: Riley Hosp Children, Indianapolis, IN 46202 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelPrasad, Asuri Narayan论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, Dept Pediat, Sect Paediat Neurol, London, ON N6A 3K7, Canada Univ Western Ontario, Div Clin Neurol Sci, Fac Med, Schulich Sch Med & Dent, London, ON N6A 3K7, Canada Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelPrasad, Chitra论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Paediat, Sect Genet, London, ON N6A 3K7, Canada Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelSadler, Laurie论文数: 0 引用数: 0 h-index: 0机构: SUNY Buffalo, Women & Childrens Hosp Buffalo, Dept Pediat, Div Genet,Jacobs Sch Med & Biomed Sci, Buffalo, NY 14214 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel论文数: 引用数: h-index:机构:Mullen, Thomas E.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 53377 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelBegtrup, Amber论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelBaskin, Berivan论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelPowis, Zoe论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Emerging Genet Med, Aliso Viejo, CA 92656 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelShaag, Avraham论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Dept Genet, Ctr Reference Deficiences Intellectuelles Causes, F-75013 Paris, France Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelMoldovan, George-Lucian论文数: 0 引用数: 0 h-index: 0机构: Penn State Univ, Coll Med, Dept Biochem & Mol Biol, Hershey, PA 17033 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelElpeleg, Orly论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel
- [3] A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and HypotoniaNEUROLOGY-GENETICS, 2024, 10 (05)Dannenberg, Fabian论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, Germany Charite Univ Med Berlin, Ctr Chronically Sick Children, Berlin, Germany Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyVon Moers, Arpad论文数: 0 引用数: 0 h-index: 0机构: DRK Kliniken Berlin Westend, Dept Pediat, Berlin, Germany Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyBittigau, Petra论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, Germany Charite Univ Med Berlin, Ctr Chronically Sick Children, Berlin, Germany Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyLange, Joern论文数: 0 引用数: 0 h-index: 0机构: VAMED Klin Hohenstucken, Dept Neuropediat, Brandenburg, Germany Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyWiegand, Sylvia论文数: 0 引用数: 0 h-index: 0机构: VAMED Klin Hohenstucken, Dept Neuropediat, Brandenburg, Germany Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyToeroek, Ferenc论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Inst Pharm, Ctr Mol Biosci Innsbruck, Dept Pharmacol & Toxicol, Innsbruck, Austria Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyStoelting, Gabriel论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Ctr Funct Genom, Berlin Inst Hlth, Hessische Str 4A, Berlin, Germany Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyStriessnig, Joerg论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Inst Pharm, Ctr Mol Biosci Innsbruck, Dept Pharmacol & Toxicol, Innsbruck, Austria Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyMotazacker, M. Mahdi论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Human Genet, Amsterdam UMC, Amsterdam, Netherlands Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyBroekema, Marjoleine F.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Dept Human Genet, Amsterdam UMC, Amsterdam, Netherlands Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanySchuelke, Markus论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, Germany Charite Univ Med Berlin, Ctr Chronically Sick Children, Berlin, Germany Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyKaindl, Angela M.论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, Germany Charite Univ Med Berlin, Ctr Chronically Sick Children, Berlin, Germany Charite Univ Med Berlin, Inst Cell Biol & Neurobiol, Berlin, Germany Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyScholl, Ute I.论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Ctr Funct Genom, Berlin Inst Hlth, Hessische Str 4A, Berlin, Germany Charite Univ Med Berlin, Dept Nephrol & Med Intens Care, Berlin, Germany Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, GermanyOrtner, Nadine J.论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Inst Pharm, Ctr Mol Biosci Innsbruck, Dept Pharmacol & Toxicol, Innsbruck, Austria Charite Univ Med Berlin, Dept Pediat Neurol, Berlin, Germany
- [4] Refractory Autoimmune Thrombocytopenia in an Infant with a De Novo TLR7 Gain-of-Function VariantJOURNAL OF CLINICAL IMMUNOLOGY, 2025, 45 (01)Menon, Surabhi论文数: 0 引用数: 0 h-index: 0机构: New York Presbyterian Weill Cornell Med Coll, New York, NY 10065 USA Mem Sloan Kettering, New York, NY USA New York Presbyterian Weill Cornell Med Coll, New York, NY 10065 USA论文数: 引用数: h-index:机构:Robinson, Lauren A.论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, Gale & Ira Drukier Inst Childrens Hlth, New York, NY USA Hosp Special Surg, New York, NY USA New York Presbyterian Weill Cornell Med Coll, New York, NY 10065 USAMilner, Joshua论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, New York, NY USA New York Presbyterian Weill Cornell Med Coll, New York, NY 10065 USAPascual, Virginia论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med Coll, Gale & Ira Drukier Inst Childrens Hlth, New York, NY USA New York Presbyterian Weill Cornell Med Coll, New York, NY 10065 USAVinuesa, Carola G.论文数: 0 引用数: 0 h-index: 0机构: Francis Crick Inst, 1 Midland Rd, London NW1 1AT, England New York Presbyterian Weill Cornell Med Coll, New York, NY 10065 USAKaicker, Shipra论文数: 0 引用数: 0 h-index: 0机构: New York Presbyterian Weill Cornell Med Coll, New York, NY 10065 USA Weill Cornell Med, Dept Pediat Hematol Oncol, 525 East 68th St,Payson 695, New York, NY 10065 USA New York Presbyterian Weill Cornell Med Coll, New York, NY 10065 USA
- [5] Neurodevelopmental response to nifedipine treatment in an infant with Congenital Hyperinsulinism due to de novo gain-of-function CACNA1D variantHORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 134 - 135Pujari, Divya论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, EnglandConlon, Alison论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, EnglandWakeling, Emma论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Clin Genet, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, EnglandHoughton, Jayne论文数: 0 引用数: 0 h-index: 0机构: Royal Devon Univ Healthcare NHS Trust, Exeter Genom Lab, Exeter, Devon, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, EnglandFlanagan, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Exeter, Dept Biomed & Clin Sci, Sch Med, Exeter, Devon, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, EnglandEldred, Carey论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Physiotherapy, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, EnglandStarling, Luke论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Ctr Inherited Cardiovasc Dis, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, EnglandKaliakatsos, Marios论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Inst Child Hlth, Dept Neurol, London, England UCL, Dept Neurol, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, EnglandDastamani, Antonia论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, England Great Ormond St Hosp Sick Children, Dept Paediat Endocrinol & Diabet, London, England
- [6] A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndromeEuropean Journal of Human Genetics, 2019, 27 : 1369 - 1378María Elena Rodríguez-García论文数: 0 引用数: 0 h-index: 0机构: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12),Francisco Javier Cotrina-Vinagre论文数: 0 引用数: 0 h-index: 0机构: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12),Marcello Bellusci论文数: 0 引用数: 0 h-index: 0机构: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12),Ana Martínez de Aragón论文数: 0 引用数: 0 h-index: 0机构: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12),Laura Hernández-Sánchez论文数: 0 引用数: 0 h-index: 0机构: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12),Patricia Carnicero-Rodríguez论文数: 0 引用数: 0 h-index: 0机构: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12),Elena Martín-Hernández论文数: 0 引用数: 0 h-index: 0机构: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12),Francisco Martínez-Azorín论文数: 0 引用数: 0 h-index: 0机构: Laboratorio de Enfermedades Mitocondriales. Instituto de Investigación Hospital 12 de Octubre (i+12),
- [7] A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 (09) : 1369 - 1378Elena Rodriguez-Garcia, Maria论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, SpainJavier Cotrina-Vinagre, Francisco论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, SpainBellusci, Marcello论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Enfermedades Mitocondriales & Metabol Hered, Unidad Pediat Enfermedades Raras, E-28041 Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, SpainMartinez de Aragon, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Unidad Pediat Neurorradiol, E-28041 Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, SpainHernandez-Sanchez, Laura论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, SpainCarnicero-Rodriguez, Patricia论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, SpainMartin-Hernandez, Elena论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Enfermedades Mitocondriales & Metabol Hered, Unidad Pediat Enfermedades Raras, E-28041 Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, SpainMartinez-Azorin, Francisco论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, Spain CIBERER, U723, E-28041 Madrid, Spain Inst Invest Hosp 12 Octubre I 12, Lab Enfermedades Mitocondriales, E-28041 Madrid, Spain
- [8] Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in KoreaYONSEI MEDICAL JOURNAL, 2018, 59 (08) : 1004 - 1007论文数: 引用数: h-index:机构:Jhun, Byung Woo论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Med, Div Pulm & Crit Care Med,Sch Med, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Lab Med & Genet, Sch Med, Seoul, South Korea论文数: 引用数: h-index:机构:Kiln, Yae-Jean论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Div Pediat Infect Dis & Immunodeficiency,Sch Med, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Lab Med & Genet, Sch Med, Seoul, South KoreaYun, Sun Ae论文数: 0 引用数: 0 h-index: 0机构: Samsung Med Ctr, Ctr Clin Med, Samsung Biomed Res Inst, Seoul, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Lab Med & Genet, Sch Med, Seoul, South KoreaNham, Eliel论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Med, Div Pulm & Crit Care Med,Sch Med, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Lab Med & Genet, Sch Med, Seoul, South KoreaKong, Taehwan论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Med, Div Pulm & Crit Care Med,Sch Med, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Lab Med & Genet, Sch Med, Seoul, South KoreaKi, Chang-Seok论文数: 0 引用数: 0 h-index: 0机构: Green Cross Genome, 107 Ihyeon Ro 30beon Gil, Yongin 16924, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Lab Med & Genet, Sch Med, Seoul, South Korea论文数: 引用数: h-index:机构:
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