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- [16] Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBRAIN, 2024, 147 (05) : 1837 - 1855Rinaldi, Berardo论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyBayat, Allan论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Med, DK-4293 Dianalund, Denmark Univ Southern Denmark, Dept Reg Hlth Res, DK-5230 Odense, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyZachariassen, Linda G.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalySun, Jia-Hui论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, State Key Lab Pharmaceut Biotechnol, Model Anim Res Ctr, Dept Neurol ,Nanjing Drum Tower Hosp,Med Sch, Nanjing 210032, Jiangsu, Peoples R China Hangzhou Normal Univ, Coll Life & Environm Sci, Zhejiang Key Lab Organ Dev & Regenerat, Hangzhou 310030, Peoples R China Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyGe, Yu-Han论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, State Key Lab Pharmaceut Biotechnol, Model Anim Res Ctr, Dept Neurol ,Nanjing Drum Tower Hosp,Med Sch, Nanjing 210032, Jiangsu, Peoples R China Nanjing Univ, Natl Resource Ctr Mutant Mice, Jiangsu Key Lab Mol Med, Med Sch,Minist Educ,Key Lab Model Anim Dis Study, Nanjing 210032, Peoples R China Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyZhao, Dan论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyBonde, Kristine论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyMadsen, Laura H.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyAwad, Ilham Abdimunim Ali论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyBagiran, Duygu论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalySbeih, Amal论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyShah, Syeda Maidah论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyEl-Sayed, Shaymaa论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, Italy论文数: 引用数: h-index:机构:Pedersen, Miriam G.论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyStenum-Berg, Charlotte论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Dept Drug Design & Pharmacol, DK-2100 Copenhagen, Denmark Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyWalker, Louise Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Dept Chem & Biomol Sci, Ottawa, ON K1H 8M5, Canada Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyKrey, Ilona论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Med Ctr, Inst Human Genet, D-04103 Leipzig, Germany Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyDelahaye-Duriez, Andree论文数: 0 引用数: 0 h-index: 0机构: Hop Jean Verdier, Assistance Publ Hop Paris, Unite fonct med genom & genet Clin, F-93140 Bondy, France Univ Paris Cite, Inserm, NeuroDiderot, UMR 1141, F-75019 Paris, France Univ Sorbonne Paris Nord, UFR SMBH, F-93000 Bobigny, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyEmrick, Lisa T.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalySully, Krystal论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyMurali, Chaya N.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyBurrage, Lindsay C.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyGonzalez, Julie Ana Plaud论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyParnes, Mered论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Texas Childrens Hosp, Pediat Movement Disorders Clin, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyFriedman, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Rady Childrens Inst Genom Med, San Diego, CA 92123 USA Univ Calif San Diego, Dept Neurosci, San Diego, CA 92123 USA Univ Calif San Diego, Dept Pediat, San Diego, CA 92123 USA Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyIsidor, Bertrand论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Serv Genet Med, CHU Nantes, F-44000 Nantes, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyLefranc, Jeremie论文数: 0 引用数: 0 h-index: 0机构: CHU Brest, Pediat Neurophysiol Dept, F-29200 Brest, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyRedon, Sylvia论文数: 0 引用数: 0 h-index: 0机构: CHU Brest, Serv Genet Med, F-29200 Brest, France Univ Brest, CHU Brest, UMR 1078, F-29200 Brest, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyHeron, Delphine论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Armand Trousseau, APHP, Dept Genet, F-75013 Paris, France Grp Hosp Pitie Salpetriere, F-75013 Paris, France Ctr Reference Deficiences Intellectuelles Causes, F-75013 Paris, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyMignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Armand Trousseau, APHP, Dept Genet, F-75013 Paris, France Grp Hosp Pitie Salpetriere, F-75013 Paris, France Ctr Reference Deficiences Intellectuelles Causes, F-75013 Paris, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Pitie Salpetriere Hosp, APHP, Genet Dept, F-75013 Paris, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyFradin, Melanie论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Hop Sud, Serv Genet Med, F-35200 Rennes, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyDubourg, Christele论文数: 0 引用数: 0 h-index: 0机构: CHU Rennes, Serv Genet Mol & Genom, Dept Surg, F-35200 Rennes, France Univ Rennes, Inst Genet & Dev Rennes, CNRS, UMR 6290, F-35200 Rennes, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyMercier, Sandra论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Serv Genet Med, CHU Nantes, F-44000 Nantes, France Nantes Univ, Inst thorax, CHU Nantes, CNRS,INSERM, F-44000 Nantes, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, Italy论文数: 引用数: h-index:机构:Cogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Nantes Univ, Serv Genet Med, CHU Nantes, F-44000 Nantes, France Nantes Univ, Inst thorax, CHU Nantes, CNRS,INSERM, F-44000 Nantes, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, Italy论文数: 引用数: h-index:机构:Rivier, Clotilde论文数: 0 引用数: 0 h-index: 0机构: Villefranche sur Saone Hosp, Dept Paediat, F-69655 Villefranche, France Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyMilani, Donatella论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, I-20122 Milan, Italy Sophia Childrens Univ Hosp, Erasmus Med Ctr, Dept Pediat, ENCORE, NL-3015 CN Rotterdam, Netherlands Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyBedeschi, Maria Francesca论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyDi Napoli, Claudia论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyGrilli, Federico论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyMarchisio, Paola论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Pediat Pneumoinfettivol, I-20122 Milan, Italy Univ Milan, I-20122 Milan, Italy Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyKoudijs, Suzanna论文数: 0 引用数: 0 h-index: 0机构: Sophia Childrens Univ Hosp, Erasmus Med Ctr, Dept Neurol, ENCORE, NL-3015 CN Rotterdam, Netherlands Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyVeenma, Danielle论文数: 0 引用数: 0 h-index: 0机构: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyArgilli, Emanuela论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA Univ Calif San Francisco, Weill Inst Neurosci, Dept Neurol, San Francisco, CA 94143 USA Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyLynch, Sally Ann论文数: 0 引用数: 0 h-index: 0机构: Childrens Hlth Ireland Crumlin, Dept Clin Genet, Dublin D12N512, Ireland Fdn IRCCS Ca Granda Osped Maggiore Policlin, Med Genet Unit, I-20122 Milan, ItalyAu, Ping Yee Billie论文数: 0 引用数: 0 h-index: 0机构: 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