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- [41] Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction CardiomyopathyCIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020, 13 (06): : 707 - 709Bisabu, Ken Kelu论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, Canada Montreal Heart Inst, Res Ctr, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Med, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, CanadaZhao, Juan论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Res Ctr, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Pharmacol & Physiol, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, CanadaMokrane, Alla-Eddine论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Res Ctr, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Med, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Pharmacol & Physiol, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, CanadaSegura, Emilie论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Res Ctr, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Pharmacol & Physiol, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, CanadaMarsolais, Mireille论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Res Ctr, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Pharmacol & Physiol, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, CanadaGrondin, Steffany论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, Canada Montreal Heart Inst, Res Ctr, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Med, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, CanadaNaas, Evelyne论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, CanadaGagnon, Johannie论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Aguilar, Martin论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Res Ctr, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Med, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, CanadaMongeon, Francois-Pierre论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, Canada Montreal Heart Inst, Res Ctr, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Med, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, Canada论文数: 引用数: h-index:机构:Parent, Lucie论文数: 0 引用数: 0 h-index: 0机构: Montreal Heart Inst, Res Ctr, Montreal, PQ, Canada Univ Montreal, Fac Med, Dept Pharmacol & Physiol, Montreal, PQ, Canada Montreal Heart Inst, Cardiovasc Genet Ctr, Montreal, PQ, Canada论文数: 引用数: h-index:机构:
- [42] Evolution of the Gain-of-Function MUC5B Promoter VariantAMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2022, 206 (10) : 1189 - 1191Schwartz, David A.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado Anschutz Med Campus, Dept Med, Aurora, CO 80045 USA Univ Colorado Anschutz Med Campus, Dept Immunol, Aurora, CO 80045 USA Univ Colorado Anschutz Med Campus, Dept Med, Aurora, CO 80045 USABlumhagen, Rachel Z.论文数: 0 引用数: 0 h-index: 0机构: Natl Jewish Hlth, Ctr Genes Environm & Hlth, Denver, CO USA Univ Colorado Anschutz Med Campus, Dept Med, Aurora, CO 80045 USAFingerlin, Tasha E.论文数: 0 引用数: 0 h-index: 0机构: Natl Jewish Hlth, Ctr Genes Environm & Hlth, Denver, CO USA Univ Colorado Anschutz Med Campus, Dept Med, Aurora, CO 80045 USA
- [43] Association of a Gain-of-Function Variant in LGR4 with Central ObesityOBESITY, 2017, 25 (01) : 252 - 260Zou, Yaoyu论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaNing, Tinglu论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaShi, Juan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaChen, Maopei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaDing, Lin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaHuang, Ya论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaKauderer, Sophie论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Sch Publ Hlth, Dept Epidemiol, Providence, RI 02912 USA Brown Univ, Sch Publ Hlth, Ctr Global Cardiometab Hlth, Providence, RI 02912 USA Brown Univ, Dept Med Endocrinol, Warren Alpert Med Sch, Providence, RI 02912 USA Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaXu, Min论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaCui, Bin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaBi, Yufang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaLiu, Simin论文数: 0 引用数: 0 h-index: 0机构: Brown Univ, Sch Publ Hlth, Dept Epidemiol, Providence, RI 02912 USA Brown Univ, Sch Publ Hlth, Ctr Global Cardiometab Hlth, Providence, RI 02912 USA Brown Univ, Dept Med Endocrinol, Warren Alpert Med Sch, Providence, RI 02912 USA Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaHong, Jie论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaLiu, Ruixin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaNing, Guang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R ChinaWang, Jiqiu论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Clin Ctr Endocrine & Metab Dis,Shanghai, Natl Key Lab Med Genomes,Dept Endocrinol & Metab, China Natl Res Ctr Metab Dis,Ruijin Hosp,Sch Med, Shanghai, Peoples R China Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Hlth Sci, Lab Endocrinol & Metab, Shanghai, Peoples R China
- [44] A biallelic gain-of-function variant in MSGN1 causes a new skeletal dysplasia syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 390 - 390Koparir, Asuman论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyLekszas, Caroline论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyKeseroglu, Kemal论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Dev Biol, Cincinnati, OH USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyRad, Aboulfazl论文数: 0 引用数: 0 h-index: 0机构: Eberhard Karls Univ Tubingen, Dept Otolaryngol Head & Neck Surg, Tubingen Hearing Res Ctr, Tubingen, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyHasanzadeh, Atefeh论文数: 0 引用数: 0 h-index: 0机构: Sabzevar Univ Med Sci, Cellular & Mol Res Ctr, Sabzevar, Iran Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyKarimiani, Ehsan Ghayoor论文数: 0 引用数: 0 h-index: 0机构: Next Generat Genet Polyclin, Dept Med Genet, Mashhad, Iran Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyNarendran, Nakul论文数: 0 引用数: 0 h-index: 0机构: Univ Cincinnati, Coll Med, Cincinnati, OH USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyOzbudak, Ertugrul论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Dev Biol, Cincinnati, OH USA Univ Cincinnati, Dept Pediat, Coll Med, Cincinnati, OH USA Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyVona, Barbara论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, Germany Eberhard Karls Univ Tubingen, Dept Otolaryngol Head & Neck Surg, Tubingen Hearing Res Ctr, Tubingen, Germany Univ Med Ctr Gottingen, Inst Human Genet, Gottingen, Germany Univ Med Ctr Gottingen, Inst Auditory Neurosci, Gottingen, Germany Univ Med Ctr Gottingen, InnerEarLab, Gottingen, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, GermanyHaaf, Thomas论文数: 0 引用数: 0 h-index: 0机构: Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, Germany Julius Maximilians Univ Wurzburg, Inst Human Genet, Wurzburg, Germany
- [45] ApoC3-Gln38Lys Variant is a Gain-of-function Mutation Associated With Human HypertriglyceridemiaCIRCULATION, 2016, 134Yao, Zemin论文数: 0 引用数: 0 h-index: 0Sundaram, Meenakshi论文数: 0 引用数: 0 h-index: 0Curtis, Kaitlin R.论文数: 0 引用数: 0 h-index: 0Alipour, Mohsen A.论文数: 0 引用数: 0 h-index: 0Parks, Robin J.论文数: 0 引用数: 0 h-index: 0McIntyre, Adam D.论文数: 0 引用数: 0 h-index: 0Hegele, Robert A.论文数: 0 引用数: 0 h-index: 0
- [46] ApoC3-Gln38Lys Variant is a Gain-of-function Mutation Associated With Human HypertriglyceridemiaCIRCULATION, 2016, 134Yao, Zemin论文数: 0 引用数: 0 h-index: 0Sundaram, Meenakshi论文数: 0 引用数: 0 h-index: 0Curtis, Kaitlin R.论文数: 0 引用数: 0 h-index: 0Alipour, Mohsen A.论文数: 0 引用数: 0 h-index: 0Parks, Robin J.论文数: 0 引用数: 0 h-index: 0McIntyre, Adam D.论文数: 0 引用数: 0 h-index: 0Hegele, Robert A.论文数: 0 引用数: 0 h-index: 0
- [47] A novel germline gain-of-function variant in PIK3CDCLINICAL IMMUNOLOGY, 2017, 181 : 29 - 31Rae, William论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHSFT, Dept Immunol, Mail Point 8,Tremona Rd, Southampton SO16 6YD, Hants, England Univ Hosp Southampton NHSFT, NIHR Wellcome Trust Clin Res Facil Southampton, Southampton, Hants, England Univ Hosp Southampton NHSFT, Dept Immunol, Mail Point 8,Tremona Rd, Southampton SO16 6YD, Hants, EnglandGao, Yifang论文数: 0 引用数: 0 h-index: 0机构: NIHR Canc Res UK, Expt Canc Med Ctr, Southampton, Hants, England Univ Southampton, Univ Hosp Southampton NHSFT, Wessex Invest Sci Hub Lab, Southampton, Hants, England Univ Hosp Southampton NHSFT, Dept Immunol, Mail Point 8,Tremona Rd, Southampton SO16 6YD, Hants, EnglandWard, Daniel论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Univ Hosp Southampton NHSFT, Wessex Invest Sci Hub Lab, Southampton, Hants, England Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Hosp Southampton NHSFT, Dept Immunol, Mail Point 8,Tremona Rd, Southampton SO16 6YD, Hants, EnglandMattocks, Christopher J.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Univ Hosp Southampton NHSFT, Wessex Invest Sci Hub Lab, Southampton, Hants, England Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury, Wilts, England Univ Hosp Southampton NHSFT, Dept Immunol, Mail Point 8,Tremona Rd, Southampton SO16 6YD, Hants, EnglandEren, Efrem论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHSFT, Dept Immunol, Mail Point 8,Tremona Rd, Southampton SO16 6YD, Hants, England Univ Hosp Southampton NHSFT, Dept Immunol, Mail Point 8,Tremona Rd, Southampton SO16 6YD, Hants, EnglandWilliams, Anthony P.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHSFT, Dept Immunol, Mail Point 8,Tremona Rd, Southampton SO16 6YD, Hants, England NIHR Canc Res UK, Expt Canc Med Ctr, Southampton, Hants, England Univ Southampton, Univ Hosp Southampton NHSFT, Wessex Invest Sci Hub Lab, Southampton, Hants, England Univ Hosp Southampton NHSFT, Dept Immunol, Mail Point 8,Tremona Rd, Southampton SO16 6YD, Hants, England
- [48] A myoferlin gain-of-function variant associates with a new type of hereditary angioedemaALLERGY, 2020, 75 (11) : 2989 - 2992Ariano, Anastasia论文数: 0 引用数: 0 h-index: 0机构: Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Bellanti, Francesco论文数: 0 引用数: 0 h-index: 0机构: CURE Ctr Liver Dis Res & Treatment, Inst Internal Med, Dept Med & Surg Sci, Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, ItalyLoffredo, Stefania论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Translat Med Sci, Naples, Italy CNR, Inst Expt Endocrinol & Oncol Gaetano Salvatore, Naples, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, ItalyD'Andrea, Giovanna论文数: 0 引用数: 0 h-index: 0机构: Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, ItalyIntrieri, Mariano论文数: 0 引用数: 0 h-index: 0机构: Univ Molise, Dept Med & Hlth Sci V Tiberio, Campobasso, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, ItalyPetraroli, Angelica论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Translat Med Sci, Naples, Italy Univ Naples Federico II, Ctr Basic & Clin Immunol Res CISI, Naples, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, ItalyMaffione, Angela Bruna论文数: 0 引用数: 0 h-index: 0机构: Univ Foggia, Dept Clin & Expt Med, Human Anat, Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, ItalySpadaro, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Naples Federico II, Dept Translat Med Sci, Naples, Italy Univ Naples Federico II, Ctr Basic & Clin Immunol Res CISI, Naples, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, ItalySantacroce, Rosa论文数: 0 引用数: 0 h-index: 0机构: Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, Italy Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, Italy论文数: 引用数: h-index:机构:
- [49] ANTIBODY NEGATIVE HYPOTHYROIDISM ASSOCIATED WITH GAIN-OF-FUNCTION STAT1 MUTATIONHORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 578 - 579Kadakia, Sejal论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, San Diego, CA 92103 USA Univ Calif San Diego, San Diego, CA 92103 USALeonard, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Ready Childrens Hosp, San Diego, CA USA Univ Calif San Diego, San Diego, CA 92103 USAHagood, James论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Hosp, San Diego, CA USA Univ Calif San Diego, San Diego, CA 92103 USANewfield, Ron S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, San Diego, CA 92103 USA Rady Childrens Hosp, San Diego, CA USA Univ Calif San Diego, San Diego, CA 92103 USA
- [50] Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiencyJOURNAL OF CLINICAL INVESTIGATION, 2024, 134 (17):Benavides-Nieto, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Imagine Inst, Lab Genome Dynam Immune Syst, Equipe Labellisee Ligue Canc, Ligue 2023,INSERM UMR 1163, Ligue 2023, INSERM UMR 1163, Paris, France Hop Robert Debre, Assistance Publ Hop Paris AP HP Nord, Gen Pediat Infect Dis & Internal Med, Paris, France Univ Paris Cite, Paris, FranceAdam, Frederic论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Lab Hemostasis Inflammat & Thrombosis HITh, INSERM UMR S 1176, Le Kremlin Bicetre, France Univ Paris Cite, Paris, FranceMartin, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: Imagine Inst, Lab Lymphocyte Activat & Susceptibil EBV Infect, INSERM UMR 1163, Paris, France Univ Paris Cite, Paris, FranceBoussard, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Necker Enfants Malad Univ Hosp, AP HP, Pediat Immunol Hematol & Rheumatol, Paris, France Imagine Inst, Lab Immunogenet Pediat Autoimmune Dis, INSERM UMR 1163, Paris, France Univ Paris Cite, Paris, FranceLagresle-Peyrou, Chantal论文数: 0 引用数: 0 h-index: 0机构: AP HP, Biotherapy Clin Invest Ctr, Paris, France Imagine Inst, Lab Human Lymphohematopoiesis, INSERM UMR 1163, Paris, France Univ Paris Cite, Paris, FranceCallebaut, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Inst Mineral Phys Mat & Cosmochim, Museum Natl Hist Nat, IMPMC,UMR CNRS 7590, Paris, France Univ Paris Cite, Paris, FranceKauskot, Alexandre论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Lab Hemostasis Inflammat & Thrombosis HITh, INSERM UMR S 1176, Le Kremlin Bicetre, France Univ Paris Cite, Paris, FranceReperant, Christelle论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Lab Hemostasis Inflammat & Thrombosis HITh, INSERM UMR S 1176, Le Kremlin Bicetre, France Univ Paris Cite, Paris, FranceFeng, Miao论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Lab Hemostasis Inflammat & Thrombosis HITh, INSERM UMR S 1176, Le Kremlin Bicetre, France Univ Paris Cite, Paris, FranceBordet, Jean-Claude论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Ctr Biol Est, Lab Hemostase, Bron, France Univ Paris Cite, Paris, FranceCastelle, Martin论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malad Univ Hosp, AP HP, Pediat Immunol Hematol & Rheumatol, Paris, France Univ Paris Cite, Paris, FranceMorelle, Guillaume论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Necker Enfants Malad Univ Hosp, AP HP, Pediat Immunol Hematol & Rheumatol, Paris, France Univ Paris Cite, Paris, FranceBrouzes, Chantal论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malad Univ Hosp, AP HP, Lab Onco Hematol, Paris, France Inst Necker Enfants Malad, INSERM U1151, Paris, France Univ Paris Cite, Paris, FranceZarhrate, Mohammed论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine Struct Federat Rech Necker, Genom Core Facil, INSERM U1163, Paris, France Paris Descartes Sorbonne Paris Cite Univ, INSERM US24, CNRS UAR3633, Paris, France Univ Paris Cite, Paris, FrancePanikulam, Patricia论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Imagine Inst, Lab Mol Basis Altered Immune Homeostasis, INSERM UMR 1163, Paris, France Univ Paris Cite, Paris, FranceLambert, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Necker Enfants Malad Univ Hosp, AP HP, Study Ctr Primary Immunodeficiencies, Paris, France Univ Paris Cite, Paris, FrancePicard, Capucine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Imagine Inst, Lab Lymphocyte Activat & Susceptibil EBV Infect, INSERM UMR 1163, Paris, France Necker Enfants Malad Univ Hosp, AP HP, Study Ctr Primary Immunodeficiencies, Paris, France Necker Enfants Malad Univ Hosp, AP HP, Ctr Reference Deficits Immunitaires Hereditaires C, Paris, France Univ Paris Cite, Paris, FranceBodet, Damien论文数: 0 引用数: 0 h-index: 0机构: CHU Caen Normandie, Onco Immunohematol Pediat, Caen, France Univ Paris Cite, Paris, FranceRouger-Gaudichon, Jeremie论文数: 0 引用数: 0 h-index: 0机构: CHU Caen Normandie, Onco Immunohematol Pediat, Caen, France Univ Paris Cite, Paris, FranceRevy, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Imagine Inst, Lab Genome Dynam Immune Syst, Equipe Labellisee Ligue Canc, Ligue 2023,INSERM UMR 1163, Ligue 2023, INSERM UMR 1163, Paris, France Univ Paris Cite, Paris, Francede Villartay, Jean-Pierre论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Imagine Inst, Lab Genome Dynam Immune Syst, Equipe Labellisee Ligue Canc, Ligue 2023,INSERM UMR 1163, Ligue 2023, INSERM UMR 1163, Paris, France Univ Paris Cite, Paris, FranceMoshous, Despina论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Paris, France Imagine Inst, Lab Genome Dynam Immune Syst, Equipe Labellisee Ligue Canc, Ligue 2023,INSERM UMR 1163, Ligue 2023, INSERM UMR 1163, Paris, France Necker Enfants Malad Univ Hosp, AP HP, Pediat Immunol Hematol & Rheumatol, Paris, France Necker Enfants Malad Univ Hosp, AP HP, Ctr Reference Deficits Immunitaires Hereditaires C, Paris, France Univ Paris Cite, Paris, France