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- [41] PPP2R5D Genetic Mutations and Early-Onset ParkinsonismANNALS OF NEUROLOGY, 2021, 89 (01) : 194 - 195Walker, Ian M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USARiboldi, Giulietta M.论文数: 0 引用数: 0 h-index: 0机构: NYU, Dept Neurol, Fresco Inst Parkinsons & Movement Disorders, Sch Med, New York, NY 10016 USA Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USADrummond, Patrick论文数: 0 引用数: 0 h-index: 0机构: NYU, Dept Neurol, Fresco Inst Parkinsons & Movement Disorders, Sch Med, New York, NY 10016 USA Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USASaade-Lemus, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USAMartin-Saavedra, Juan Sebastian论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USAFrucht, Steven论文数: 0 引用数: 0 h-index: 0机构: NYU, Dept Neurol, Fresco Inst Parkinsons & Movement Disorders, Sch Med, New York, NY 10016 USA Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USABardakjian, Tanya M.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USAGonzalez-Alegre, Pedro论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USADeik, Andres论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USA Univ Penn, Dept Neurol, Parkinsons Dis & Movement Disorders Ctr, Philadelphia, PA 19104 USA
- [42] Genetic and phenotypic variability of optic neuropathiesEXPERT REVIEW OF NEUROTHERAPEUTICS, 2013, 13 (04) : 357 - 367Neuhann, Teresa论文数: 0 引用数: 0 h-index: 0机构: Med Genet Zentrum, D-80335 Munich, Germany Med Genet Zentrum, D-80335 Munich, GermanyRautenstrauss, Bernd论文数: 0 引用数: 0 h-index: 0机构: Med Genet Zentrum, D-80335 Munich, Germany Univ Munich, Friedrich Baur Inst, D-80336 Munich, Germany Med Genet Zentrum, D-80335 Munich, Germany
- [43] GENETIC BASIS OF ANTIBODY VARIABILITYCOLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY, 1967, 32 : 161 - &SMITHIES, O论文数: 0 引用数: 0 h-index: 0
- [44] Phenotypic Variability in Combined Parkinsonism-Dystonia and Isolated Idiopathic DystoniaMOVEMENT DISORDERS, 2024, 39 : S653 - S654Idrissi, S.论文数: 0 引用数: 0 h-index: 0Trinchillo, A.论文数: 0 引用数: 0 h-index: 0Velucci, V.论文数: 0 引用数: 0 h-index: 0Pellicciari, R.论文数: 0 引用数: 0 h-index: 0Esposito, M.论文数: 0 引用数: 0 h-index: 0Belvisi, D.论文数: 0 引用数: 0 h-index: 0Fabbrini, G.论文数: 0 引用数: 0 h-index: 0Erro, R.论文数: 0 引用数: 0 h-index: 0Terranova, C.论文数: 0 引用数: 0 h-index: 0Zibetti, M.论文数: 0 引用数: 0 h-index: 0Altavista, M. C.论文数: 0 引用数: 0 h-index: 0Cotelli, M. S.论文数: 0 引用数: 0 h-index: 0Castagna, A.论文数: 0 引用数: 0 h-index: 0Barbero, P.论文数: 0 引用数: 0 h-index: 0Cassano, D.论文数: 0 引用数: 0 h-index: 0Mascia, M. M.论文数: 0 引用数: 0 h-index: 0Ercoli, T.论文数: 0 引用数: 0 h-index: 0Magistrello, L.论文数: 0 引用数: 0 h-index: 0Schirinzi, T.论文数: 0 引用数: 0 h-index: 0Tinazzi, M.论文数: 0 引用数: 0 h-index: 0Pisani, A.论文数: 0 引用数: 0 h-index: 0Marinelli, L.论文数: 0 引用数: 0 h-index: 0Berardelli, A.论文数: 0 引用数: 0 h-index: 0Defazio, G.论文数: 0 引用数: 0 h-index: 0
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- [46] Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetesJOURNAL OF DIABETES, 2021, 13 (07) : 542 - 553Li, Meng论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaGong, Siqian论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaHan, Xueyao论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaZhang, Simin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaRen, Qian论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaCai, Xiaoling论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaLuo, Yingying论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaZhou, Lingli论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaZhang, Rui论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaLiu, Wei论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaZhu, Yu论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaZhou, Xianghai论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaSun, Yanfang论文数: 0 引用数: 0 h-index: 0机构: Hebei Prov Sanhe Hosp, Dept Internal Med, Langfang, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaLi, Yufeng论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Pinggu Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaMA, Yumin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R ChinaJi, Linong论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China Peking Univ, Diabet Ctr, Peoples Hosp, Dept Endocrinol & Metab, Beijing, Peoples R China
- [47] Genetic basis of early onset and progression of type 2 diabetes in South AsiansNATURE MEDICINE, 2025, 31 (01) : 323 - +Hodgson, Sam论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, EnglandWilliamson, Alice论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Precis Healthcare Univ Res Inst, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, EnglandBigossi, Margherita论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England论文数: 引用数: h-index:机构:Jacobs, Benjamin M.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, EnglandSamuel, Miriam论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, EnglandGafton, Joseph论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, EnglandZollner, Julia论文数: 0 引用数: 0 h-index: 0机构: UCL, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, EnglandSpreckley, Marie论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Blizard Inst, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England论文数: 引用数: h-index:机构:van Heel, David A.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Blizard Inst, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, EnglandMathur, Rohini论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, EnglandSiddiqui, Moneeza K.论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, EnglandFiner, Sarah论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England Queen Mary Univ London, Wolfson Inst Populat Hlth, London, England
- [48] Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk FactorsJOURNAL OF CARDIOVASCULAR DEVELOPMENT AND DISEASE, 2023, 10 (03)Rudaka, Irina论文数: 0 引用数: 0 h-index: 0机构: Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, Latvia Pauls Stradins Clin Univ Hosp, Latvian Cardiol Ctr, LV-1002 Riga, Latvia Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, LatviaVilne, Baiba论文数: 0 引用数: 0 h-index: 0机构: Riga Stradins Univ, Bioinformat Lab, LV-1007 Riga, Latvia Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, LatviaIsakova, Jekaterina论文数: 0 引用数: 0 h-index: 0机构: Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, Latvia Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, LatviaKalejs, Oskars论文数: 0 引用数: 0 h-index: 0机构: Pauls Stradins Clin Univ Hosp, Latvian Cardiol Ctr, LV-1002 Riga, Latvia Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, LatviaGailite, Linda论文数: 0 引用数: 0 h-index: 0机构: Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, Latvia Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, LatviaRots, Dmitrijs论文数: 0 引用数: 0 h-index: 0机构: Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, Latvia Riga Stradins Univ, Sci Lab Mol Genet, LV-1007 Riga, Latvia
- [49] Genetic basis of early onset and progression of type 2 diabetes in South AsiansNature Medicine, 2025, 31 (1) : 323 - 331Sam Hodgson论文数: 0 引用数: 0 h-index: 0机构: Wolfson Institute of Population Health,Joint Research and Development Office Wolfson Institute of Population Health,Joint Research and Development OfficeAlice Williamson论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,LCRN Greater Manchester Core Team Wolfson Institute of Population Health,Joint Research and Development OfficeMargherita Bigossi论文数: 0 引用数: 0 h-index: 0机构: Wolfson Institute of Population Health,Joint Research and Development Office Wolfson Institute of Population Health,Joint Research and Development OfficeDaniel Stow论文数: 0 引用数: 0 h-index: 0机构: Wolfson Institute of Population Health,Joint Research and Development Office Wolfson Institute of Population Health,Joint Research and Development OfficeBenjamin M. Jacobs论文数: 0 引用数: 0 h-index: 0机构: Wolfson Institute of Population Health,Joint Research and Development Office Wolfson Institute of Population Health,Joint Research and Development OfficeMiriam Samuel论文数: 0 引用数: 0 h-index: 0机构: Wolfson Institute of Population Health,Joint Research and Development Office Wolfson Institute of Population Health,Joint Research and Development OfficeJoseph Gafton论文数: 0 引用数: 0 h-index: 0机构: Wolfson Institute of Population Health,Joint Research and Development Office Wolfson Institute of Population Health,Joint Research and Development OfficeJulia Zöllner论文数: 0 引用数: 0 h-index: 0机构: Precision Healthcare University Research Institute,undefined Wolfson Institute of Population Health,Joint Research and Development OfficeMarie Spreckley论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,undefined Wolfson Institute of Population Health,Joint Research and Development OfficeClaudia Langenberg论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,LCRN Greater Manchester Core Team Wolfson Institute of Population Health,Joint Research and Development OfficeDavid A. van Heel论文数: 0 引用数: 0 h-index: 0机构: Queen Mary University of London,undefined Wolfson Institute of Population Health,Joint Research and Development OfficeRohini Mathur论文数: 0 引用数: 0 h-index: 0机构: Wolfson Institute of Population Health,Joint Research and Development Office Wolfson Institute of Population Health,Joint Research and Development OfficeMoneeza K. Siddiqui论文数: 0 引用数: 0 h-index: 0机构: Wolfson Institute of Population Health,Joint Research and Development Office Wolfson Institute of Population Health,Joint Research and Development OfficeSarah Finer论文数: 0 引用数: 0 h-index: 0机构: Wolfson Institute of Population Health,Joint Research and Development Office Wolfson Institute of Population Health,Joint Research and Development Office
- [50] Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variantFRONTIERS IN GENETICS, 2024, 15Marin, Victor论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceLebreton, Louis论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceGuibet, Claire论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, France Univ Bordeaux, INSERM BRIC U1312, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceMesli, Samir论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceRedonnet-Vernhet, Isabelle论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceDexant, Mathurin论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceLamireau, Delphine论文数: 0 引用数: 0 h-index: 0机构: Hop Pediat, CHU Bordeaux, Pole Pediat, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceRoche, Sandrine论文数: 0 引用数: 0 h-index: 0机构: Hop Pediat, CHU Bordeaux, Pole Pediat, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceGaschignard, Margaux论文数: 0 引用数: 0 h-index: 0机构: Hop Pediat, CHU Bordeaux, Pole Pediat, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceDelmas, Jean论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Grp Hosp Pellegrin, Serv Imagerie Antenatale Enfant & Femme, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceMargot, Henri论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, Dept Med Genet, MRGM INSERM U1211, CHU Bordeaux, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, FranceBar, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Bordeaux, Serv Neurol Pediat, NRGen Team, CHU Bordeaux,CNRS,INCIA,UMR 5287, Bordeaux, France CHU Bordeaux, Grp Hosp Pellegrin, Serv Biochim, Bordeaux, France