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- [46] Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndromeACTA NEUROPATHOLOGICA, 2020, 140 (06) : 971 - 975Garcia-Cazorla, Angels论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Synapt Metab Lab, Neurol Dept, Barcelona 08950, Catalonia, Spain MetabERN, Barcelona 08950, Catalonia, Spain Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainVerdura, Edgard论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainJulia-Palacios, Natalia论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Synapt Metab Lab, Neurol Dept, Barcelona 08950, Catalonia, Spain MetabERN, Barcelona 08950, Catalonia, Spain Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainAnderson, Eric N.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Childrens Hosp Pittsburgh, Dept Pediat, Sch Med, Pittsburgh, PA 15224 USA Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainGoicoechea, Leire论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainPlanas-Serra, Laura论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainTsogtbaatar, Enkhtuul论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Cardiovasc Med, Scottsdale, AZ 85260 USA Mayo Clin, Dept Biochem & Mol Biol, Scottsdale, AZ 85260 USA Mayo Clin, Dept Mol Pharmacol & Expt Therapeut, Scottsdale, AZ 85260 USA Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainDsouza, Nikita R.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Genom Sci & Precis Med Ctr, Bioinformat Res & Dev Lab, Milwaukee, WI 53226 USA Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainSchluter, Agatha论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainUrreizti, Roser论文数: 0 引用数: 0 h-index: 0机构: MetabERN, Barcelona 08950, Catalonia, Spain Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Inst Recerca St Joan de Deu, Clin Biochem Dept, Barcelona 08950, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainTarnowski, Jessica M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Rochester, MN 55905 USA Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainGavrilova, Ralitza H.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Neurol, Rochester, MN 55905 USA Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainRuiz, Montserrat论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainRodriguez-Palmero, Agusti论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Univ Hosp Germans Trias & Pujol, Dept Pediat, Paediat Neurol Unit, Badalona 08916, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainFourcade, Stephane论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainCogne, Benjamin论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44000 Nantes, Pays De La Loir, France Univ Nantes, Inst Thorax, CNRS, INSERM, F-44000 Nantes, Pays De La Loir, France Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, Spain论文数: 引用数: h-index:机构:Vincent, Marie论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44000 Nantes, Pays De La Loir, France Univ Nantes, Inst Thorax, CNRS, INSERM, F-44000 Nantes, Pays De La Loir, France Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainBezieau, Stephane论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Serv Genet Med, F-44000 Nantes, Pays De La Loir, France Univ Nantes, Inst Thorax, CNRS, INSERM, F-44000 Nantes, Pays De La Loir, France Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainFolmes, Clifford D.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Cardiovasc Med, Scottsdale, AZ 85260 USA Mayo Clin, Dept Biochem & Mol Biol, Scottsdale, AZ 85260 USA Mayo Clin, Dept Mol Pharmacol & Expt Therapeut, Scottsdale, AZ 85260 USA Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainZimmermann, Michael T.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Genom Sci & Precis Med Ctr, Bioinformat Res & Dev Lab, Milwaukee, WI 53226 USA Med Coll Wisconsin, Clin & Translat Sci Inst, Milwaukee, WI 53226 USA Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainKlee, Eric W.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, Spain论文数: 引用数: h-index:机构:Artuch, Rafael论文数: 0 引用数: 0 h-index: 0机构: MetabERN, Barcelona 08950, Catalonia, Spain Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Inst Recerca St Joan de Deu, Clin Biochem Dept, Barcelona 08950, Catalonia, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainCousin, Margot A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, SpainPujol, Aurora论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Madrid 28029, Spain Bellvitge Biomed Res Inst IDIBELL, Neurometab Dis Lab, Barcelona 08908, Catalonia, Spain Catalan Inst Res & Adv Studies ICREA, Barcelona 08010, Spain Hosp St Joan de Deu, Inst Pediat Recerca, Neurometab Unit, Barcelona 08950, Catalonia, Spain
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