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Population-based prevalence of self-reported pediatric diabetes and screening for undiagnosed type 2 diabetes in Chinese children in years 2017-2019, - 2019, a cross-sectional study Wu, Wei; Zhang, Jian-Wei; Li, Yangxi; Huang, Ke; Chen, Rui-Min; Maimaiti, Mireguli; Luo, Jing-Si; Chen, Shao-Ke; Wu, Di; Zhu, Min; Wang, Chun-Lin; Su, Zhe; Liang, Yan; Yao, Hui; Wei, Hai-Yan; Zheng, Rong-Xiu; Du, Hong-Wei; Luo, Fei-Hong; Li, Pin; Wang, Ergang; Polychronakos, Constantin; Fu, Jun-Fen 分享 收藏
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A Novel Somatic Mutation Implicates ATP6V0D1 in Proinsulin Processing Avari, Parizad; Eng, Pei Chia; Hu, Ming; Chen, Runzhi; Popovic, Natalija; Polychronakos, Constantin; Spalding, Duncan; Rutter, Guy A.; Oliver, Nick; Wernig, Florian 分享 收藏
Dissecting the impact of molecular T-cell HLA mismatches in kidney transplant failure: A retrospective cohort study Lemieux, William; Fleischer, David; Yang, Archer Yi; Niemann, Matthias; Oualkacha, Karim; Klement, William; Richard, Lucie; Polychronakos, Constantin; Liwski, Robert; Claas, Frans; Gebel, Howard M. M.; Keown, Paul A. A.; Lewin, Antoine; Sapir-Pichhadze, Ruth 分享 收藏
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Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population 全面的遗传筛查揭示了巴基斯坦人群中单基因糖尿病形式的广泛遗传变异 Rafique, Ibrar; Mir, Asif; Siddiqui, Shajee; Saqib, Muhammad Arif Nadeem; Fawwad, Asher; Marchand, Luc; Adnan, Muhammad; Naeem, Muhammad; Basit, Abdul; Polychronakos, Constantin 分享 收藏
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Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci Qu, Hui-Qi; Qu, Jingchun; Bradfield, Jonathan; Marchand, Luc; Glessner, Joseph; Chang, Xiao; March, Michael; Li, Jin; Connolly, John J.; Roizen, Jeffrey D.; Sleiman, Patrick; Polychronakos, Constantin; Hakonarson, Hakon 分享 收藏
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Monogenic Causes in the Type 1 Diabetes Genetics Consortium Cohort: Low Genetic Risk for Autoimmunity in Case Selection 1型糖尿病遗传学联盟队列中的单基因病因: 病例选择中自身免疫的遗传风险低 Marchand, Luc; Li, Meihang; Leblicq, Coralie; Rafique, Ibrar; Alarcon-Martinez, Tugba; Lange, Claire; Rendon, Laura; Tam, Emily; Courville-Le Bouyonnec, Ariane; Polychronakos, Constantin 分享 收藏
tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly Lin, Hu; Zhou, Xuelian; Chen, Xuefeng; Huang, Ke; Wu, Wei; Fu, Junfen; Li, Yangxi; Polychronakos, Constantin; Dong, Guan-Ping 分享 收藏
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C Pelletier, Felixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan; Tran, Luan T.; Ulrick, Nicole; Guerrero, Kether; Rampakakis, Emmanouil; van Spaendonk, Rosalina M. L.; Naidu, Sakkubai; Pohl, Daniela; Gibson, William T.; Demos, Michelle; Goizet, Cyril; Tejera-Martin, Ingrid; Potic, Ana; Fogel, Brent L.; Brais, Bernard; Sylvain, Michel; Sebire, Guillaume; Lourenco, Charles Marques; Bonkowsky, Joshua L.; Catsman-Berrevoets, Coriene; Pinto, Pedro S.; Tirupathi, Sandya; Stromme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Kraegeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S.; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Iciar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia, Maria Eugenia Garcia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M.; Innes, A. Micheil; Kauffman, Marcelo; Kirwin, Susan M.; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melancon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando, I; Moutton, Sebastien; Murphy, Raymond P. J.; Nickel, Miriam; Onay, Huseyin; Orcesi, Simona; Ozkinay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Marfa, Mercedes Pineda; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Espinosa, Norberto Rodriguez; Ronan, Anne; Ostergaard, John R.; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Roos, Laura K. Sonderberg; Stevens, Cathy A.; Synofzik, Matthis; Sztriha, Laszlo; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P.; Vazquez-Lopez, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard, I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S.; Vanderver, Adeline; Martos-Moreno, Gabriel A.; Polychronakos, Constantin; Wolf, Nicole, I; Bernard, Genevieve 分享 收藏
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