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- [1] Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndromeJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2020, 91 (08): : 898 - 900Echaniz-Laguna, Andoni论文数: 0 引用数: 0 h-index: 0机构: CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, France French Natl Reference Ctr Rare Neuropathies NNERF, Le Kremlin Bicetre, France INSERM, U1195, Le Kremlin Bicetre, France Paris Sud Univ, Le Kremlin Bicetre, France CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, FranceBiancalana, Valerie论文数: 0 引用数: 0 h-index: 0机构: CHR, Lab Diagnost Genet, Strasbourg, France Univ Strasbourg, Inst Genet & Biol Mol & Cellulaire IGBMC, Federat Med Translat Strasbourg, INSERM,CNRS,U964,UMR 7104, Illkirch Graffenstaden, France CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, FranceNadaj-Pakleza, Aleksandra论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Dept Neurol, Strasbourg, France CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, FranceFournier, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: CHU Pitie Salpetriere, AP HP, Dept Neurophysiol, Paris, France CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, FranceMatthews, Emma论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sqaure Inst Neurol, Dept Neuromuscular Dis, London, England CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, FranceHanna, Michael G.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sqaure Inst Neurol, Dept Neuromuscular Dis, London, England CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, FranceMannikko, Roope论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sqaure Inst Neurol, Dept Neuromuscular Dis, London, England CHU Bicetre, AP HP, Dept Neurol, Le Kremlin Bicetre, France
- [2] Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal LipidosisKIDNEY INTERNATIONAL REPORTS, 2023, 8 (11): : 2428 - 2438Wu, Hongyan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R ChinaXu, Huan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Pathol, Chengdu, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R ChinaLei, Song论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Pathol, Chengdu, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R ChinaYang, Zhi论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R ChinaYang, Shan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R ChinaDu, Jingxue论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R ChinaZhou, Yi论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R ChinaLiu, Yunqiang论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Med Genet, Chengdu, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R ChinaYang, Yuan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Hosp, Dept Med Genet, Chengdu, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R ChinaHu, Zhangxue论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R China Sichuan Univ, West China Hosp, Dept Nephrol, Guoxue Alley 37, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, Dept Nephrol, West China Hosp, Chengdu, Peoples R China
- [3] SMAD1 Loss-of-Function Variant Responsible for Congenital Heart DiseaseBIOMED RESEARCH INTERNATIONAL, 2022, 2022Wang, Zhi论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaQiao, Xiao-Hui论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaXu, Ying-Jia论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Shanghai Peoples Hosp 5, Dept Cardiol, Shanghai 200240, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaLiu, Xing-Yuan论文数: 0 引用数: 0 h-index: 0机构: Tongji Univ, Tongji Hosp, Dept Pediat, Sch Med, Shanghai 200065, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaHuang, Ri-Tai论文数: 0 引用数: 0 h-index: 0机构: Shanghai Tong Univ, Renji Hosp, Sch Med, Dept Cardiovasc Surg, Shanghai 200127, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaXue, Song论文数: 0 引用数: 0 h-index: 0机构: Shanghai Tong Univ, Renji Hosp, Sch Med, Dept Cardiovasc Surg, Shanghai 200127, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaQiu, Hai-Yan论文数: 0 引用数: 0 h-index: 0机构: Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R ChinaYang, Yi-Qing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Shanghai Peoples Hosp 5, Dept Cardiol, Shanghai 200240, Peoples R China Fudan Univ, Dept Cardiovasc Res Lab, Shanghai Peoples Hosp 5, Shanghai 200240, Peoples R China Fudan Univ, Shanghai Peoples Hosp 6, Dept Cent Lab, Shanghai 200240, Peoples R China Ningbo Women & Childrens Hosp, Dept Pediat Internal Med, Ningbo 315031, Peoples R China
- [4] A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeEuropean Journal of Human Genetics, 2015, 23 : 1266 - 1268Julie Gauthier论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsBouchra Ouled Amar Bencheikh论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsFadi F Hamdan论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsSteven M Harrison论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsLinda A Baker论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsFrançoise Couture论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsIsabelle Thiffault论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsReda Ouazzani论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsMark E Samuels论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsGrant A Mitchell论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsGuy A Rouleau论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsJacques L Michaud论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical GeneticsJean- François Soucy论文数: 0 引用数: 0 h-index: 0机构: CHU Sainte-Justine,Molecular Diagnostic Laboratory and Division of Medical Genetics
- [5] A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (09) : 1266 - 1268Gauthier, Julie论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, Canada CHU St Justine, Div Med Genet, Montreal, PQ H3T 1C5, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaBencheikh, Bouchra Ouled Amar论文数: 0 引用数: 0 h-index: 0机构: Montreal Neurol Hosp & Inst, Montreal, PQ, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaHamdan, Fadi F.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaHarrison, Steven M.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas SW Med Ctr Dallas, Dept Urol, Dallas, TX 75390 USA CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaBaker, Linda A.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas SW Med Ctr Dallas, Dept Urol, Dallas, TX 75390 USA Univ Texas SW Med Ctr Dallas, McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA Childrens Med Ctr, Dallas, TX 75235 USA CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaCouture, Francoise论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, Canada CHU St Justine, Div Med Genet, Montreal, PQ H3T 1C5, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaThiffault, Isabelle论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, Canada CHU St Justine, Div Med Genet, Montreal, PQ H3T 1C5, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaOuazzani, Reda论文数: 0 引用数: 0 h-index: 0机构: CHIS Ibn Sina, Neurophysiol Div, Hosp Special, Rabat, Morocco CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaSamuels, Mark E.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaMitchell, Grant A.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, Canada CHU St Justine, Div Med Genet, Montreal, PQ H3T 1C5, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaRouleau, Guy A.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, Canada CHU St Justine, Div Med Genet, Montreal, PQ H3T 1C5, Canada Montreal Neurol Hosp & Inst, Montreal, PQ, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaMichaud, Jacques L.论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, Canada CHU St Justine, Div Med Genet, Montreal, PQ H3T 1C5, Canada CHU St Justine, Res Ctr, Montreal, PQ H3T 1C5, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, CanadaSoucy, Jean-Francois论文数: 0 引用数: 0 h-index: 0机构: CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, Canada CHU St Justine, Div Med Genet, Montreal, PQ H3T 1C5, Canada CHU St Justine, Mol Diagnost Lab, Montreal, PQ H3T 1C5, Canada
- [6] Homozygous HOXB1 Loss-of-Function Mutation in a Large Family with Hereditary Congenital Facial ParesisAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (07) : 1813 - 1819Vogel, Markus论文数: 0 引用数: 0 h-index: 0机构: Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, Germany Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, GermanyVelleuer, Eunike论文数: 0 引用数: 0 h-index: 0机构: Univ Dusseldorf, Univ Childrens Hosp, Dept Pediat Oncol Hematol & Clin Immunol, Dusseldorf, Germany Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, GermanySchmidt-Jimenez, Leon F.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, GermanyMayatepek, Ertan论文数: 0 引用数: 0 h-index: 0机构: Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, Germany Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, GermanyBorkhardt, Arndt论文数: 0 引用数: 0 h-index: 0机构: Univ Dusseldorf, Univ Childrens Hosp, Dept Pediat Oncol Hematol & Clin Immunol, Dusseldorf, Germany Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, GermanyAlawi, Malik论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Bioinformat Serv Facil, Hamburg, Germany Univ Hamburg, Ctr Bioinformat, Hamburg, Germany Heinrich Pette Inst, Leibniz Inst Expt Virol, Virus Genom, Hamburg, Germany Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, GermanyKutsche, Kerstin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, GermanyKortuem, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Dusseldorf, Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, Moorenstr 5, D-40225 Dusseldorf, Germany
- [7] A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like SyndromeGENES, 2024, 15 (01)Onore, Maria Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, ItalyCaiazza, Martina论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Monaldi Hosp, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis Unit, I-80131 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, ItalyFarina, Antonella论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, ItalyScarano, Gioacchino论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Monaldi Hosp, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis Unit, I-80131 Naples, Italy Hosp G Rummo, Med Genet Unit, AORN San Pio, I-82100 Benevento, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, ItalyBudillon, Alberto论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, ItalyBorrelli, Rossella Nicoletta论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, ItalyLimongelli, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Monaldi Hosp, Dept Translat Med Sci, Inherited & Rare Cardiovasc Dis Unit, I-80131 Naples, Italy UCL, Inst Cardiovasc Sci, London E1 4NS, England St Bartholomews Hosp, London E1 4NS, England Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, ItalyNigro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, Italy Telethon Inst Genet & Med TIGEM, I-80078 Pozzuoli, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, ItalyPiluso, Giulio论文数: 0 引用数: 0 h-index: 0机构: Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, Italy Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, Italy
- [8] A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotoniaAMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2023, 24 (5-6) : 535 - 538Cakar, Arman论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, Turkiye Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, TurkiyePekbilir, Emre论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Ctr Life Sci & Technol, Dept Mol Biol & Genet, Istanbul, Turkiye Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, TurkiyeCeylaner, Serdar论文数: 0 引用数: 0 h-index: 0机构: Intergen Genet Lab, Med Genet, Ankara, Turkiye Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, TurkiyeDurmus, Hacer论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, Turkiye Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, TurkiyeBattaloglu, Esra论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Ctr Life Sci & Technol, Dept Mol Biol & Genet, Istanbul, Turkiye Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, TurkiyeSahin, Umut论文数: 0 引用数: 0 h-index: 0机构: Bogazici Univ, Ctr Life Sci & Technol, Dept Mol Biol & Genet, Istanbul, Turkiye Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, TurkiyeParman, Yesim论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, Turkiye Istanbul Univ, Istanbul Fac Med, Neurol Dept, Neuromuscular Unit, Istanbul, Turkiye
- [9] A Novel KISS1R Loss-of-function Variant in a Chinese Child with Congenital Hypogonadotropic HypogonadismJOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2024, 16 (01) : 91 - 94Zhou, Peng论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu, Peoples R China Sichuan Univ, West China Univ Hosp 2, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu, Peoples R ChinaWu, Jin论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu, Peoples R China Sichuan Univ, West China Univ Hosp 2, Key Lab Birth Defects & Related Dis Women & Childr, Minist Educ, Chengdu, Peoples R China Sichuan Univ, West China Univ Hosp 2, Dept Pediat, Chengdu, Peoples R China
- [10] IKZF1 Loss-of-Function Variant Causes Autoimmunity and Severe Familial Antiphospholipid SyndromeJournal of Clinical Immunology, 2019, 39 : 353 - 357Yannick Dieudonné论文数: 0 引用数: 0 h-index: 0机构: Institute of Molecular and Cellular Biology (IBMC),CNRS UPR 3572, Immunopathology and Therapeutic Chemistry, Laboratory of Excellence MedalisAurélien Guffroy论文数: 0 引用数: 0 h-index: 0机构: Institute of Molecular and Cellular Biology (IBMC),CNRS UPR 3572, Immunopathology and Therapeutic Chemistry, Laboratory of Excellence MedalisOlivier Vollmer论文数: 0 引用数: 0 h-index: 0机构: Institute of Molecular and Cellular Biology (IBMC),CNRS UPR 3572, Immunopathology and Therapeutic Chemistry, Laboratory of Excellence MedalisRaphael Carapito论文数: 0 引用数: 0 h-index: 0机构: Institute of Molecular and Cellular Biology (IBMC),CNRS UPR 3572, Immunopathology and Therapeutic Chemistry, Laboratory of Excellence MedalisAnne-Sophie Korganow论文数: 0 引用数: 0 h-index: 0机构: Institute of Molecular and Cellular Biology (IBMC),CNRS UPR 3572, Immunopathology and Therapeutic Chemistry, Laboratory of Excellence Medalis