日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genome-wide association study of copy number variations in Parkinson's disease

帕金森病拷贝数变异的全基因组关联研究

Landoulsi, Zied; Sreelatha, Ashwin Ashok Kumar; Kuznetsov, Nicole; Schulte, Claudia; Bobbili, Dheeraj Reddy; Montanucci, Ludovica; Leu, Costin; Niestroj, Lisa-Marie; Hassanin, Emadeldin; Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Portugal, Berta; Edsall, Connor; Kru Ger, Jens; Hernandez, Dena G; Blauwendraat, Cornelis; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Tan, Manuela; Rogaeva, Ekaterina; Lang, Anthony; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugenie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Burbulla, Lena F; Matsuo, Hirotaka; Nakayama, Akiyoshi; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Pavelka, Lukas; Kolber, Pierre; van de Warrenburg, Bart Pc; Bloem, Bastiaan R; Singleton, Andrew B; Vitale, Dan; Toft, Mathias; Pihlstrom, Lasse; Guedes, Leonor Correia; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Clarke, Carl E; Morrison, Karen E; Krainc, Dimitri; Farrer, Matt J; Lal, Dennis; Elbaz, Alexis; Gasser, Thomas; Krüger, Rejko; Sharma, Manu; May, Patrick

Abstracts from the 24th Annual Meeting of the Irish Society of Human Genetics: Virtual Conference, 17(th) September 2021

爱尔兰人类遗传学会第24届年会(线上会议,2021年9月17日)摘要

Domenighetti, Cloé; Sugier, Pierre-Emmanuel; Sreelatha, Ashwin Ashok Kumar; Schulte, Claudia; Grover, Sandeep; Mohamed, Océane; Portugal, Berta; May, Patrick; Bobbili, Dheeraj R; Radivojkov-Blagojevic, Milena; Lichtner, Peter; Singleton, Andrew B; Hernandez, Dena G; Edsall, Connor; Mellick, George D; Zimprich, Alexander; Pirker, Walter; Rogaeva, Ekaterina; Lang, Anthony E; Koks, Sulev; Taba, Pille; Lesage, Suzanne; Brice, Alexis; Corvol, Jean-Christophe; Chartier-Harlin, Marie-Christine; Mutez, Eugénie; Brockmann, Kathrin; Deutschländer, Angela B; Hadjigeorgiou, Georges M; Dardiotis, Efthimos; Stefanis, Leonidas; Simitsi, Athina Maria; Valente, Enza Maria; Petrucci, Simona; Duga, Stefano; Straniero, Letizia; Zecchinelli, Anna; Pezzoli, Gianni; Brighina, Laura; Ferrarese, Carlo; Annesi, Grazia; Quattrone, Andrea; Gagliardi, Monica; Matsuo, Hirotaka; Kawamura, Yusuke; Hattori, Nobutaka; Nishioka, Kenya; Chung, Sun Ju; Kim, Yun Joong; Kolber, Pierre; van de Warrenburg, Bart Pc; Bloem, Bastiaan R; Aasly, Jan; Toft, Mathias; Pihlstrøm, Lasse; Guedes, Leonor Correia; Ferreira, Joaquim J; Bardien, Soraya; Carr, Jonathan; Tolosa, Eduardo; Ezquerra, Mario; Pastor, Pau; Diez-Fairen, Monica; Wirdefeldt, Karin; Pedersen, Nancy L; Ran, Caroline; Belin, Andrea C; Puschmann, Andreas; Hellberg, Clara; Clarke, Carl E; Morrison, Karen E; Tan, Manuela; Krainc, Dimitri; Burbulla, Lena F; Farrer, Matt J; Krüger, Rejko; Gasser, Thomas; Sharma, Manu; Elbaz, Alexis

Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

HPSE2基因功能丧失突变导致常染色体隐性遗传性泌尿面部综合征

Hunter-Zinck, Haley; Musharoff, Shaila; Salit, Jacqueline; Al-Ali, Khalid A; Chouchane, Lotfi; Gohar, Abeer; Matthews, Rebecca; Butler, Marcus W; Fuller, Jennifer; Hackett, Neil R; Crystal, Ronald G; Clark, Andrew G; Garber, Kathryn B; Bungartz, Kathryn D; Williamson, Robin E; Alanay, Yasemin; Avaygan, Hrispima; Camacho, Natalia; Utine, G Eda; Boduroglu, Koray; Aktas, Dilek; Alikasifoglu, Mehmet; Tuncbilek, Ergul; Orhan, Diclehan; Bakar, Filiz Tiker; Zabel, Bernard; Superti-Furga, Andrea; Bruckner-Tuderman, Leena; Curry, Cindy JR; Pyott, Shawna; Byers, Peter H; Eyre, David R; Baldridge, Dustin; Lee, Brendan; Merrill, Amy E; Davis, Elaine C; Cohn, Daniel H; Akarsu, Nurten; Krakow, Deborah; Shaheen, Ranad; Al-Owain, Mohammed; Sakati, Nadia; Alzayed, Zayed S; Alkuraya, Fowzan S; Bashamboo, Anu; Ferraz-de-Souza, Bruno; Lourenço, Diana; Lin, Lin; Sebire, Neil J; Montjean, Debbie; Bignon-Topalovic, Joelle; Mandelbaum, Jacqueline; Siffroi, Jean-Pierre; Christin-Maitre, Sophie; Radhakrishna, Uppala; Rouba, Hassan; Ravel, Celia; Seeler, Jacob; Achermann, John C; McElreavey, Ken; Bakalkin, Georgy; Watanabe, Hiroyuki; Jezierska, Justyna; Depoorter, Cloë; Verschuuren-Bemelmans, Corien; Bazov, Igor; Artemenko, Konstantin A; Yakovleva, Tatjana; Dooijes, Dennis; Van de Warrenburg, Bart PC; Zubarev, Roman A; Kremer, Berry; Knapp, Pamela E; Hauser, Kurt F; Wijmenga, Cisca; Nyberg, Fred; Sinke, Richard J; Verbeek, Dineke S; Cheng, Qing; Cheng, Cheng; Crews, Kristine R; Ribeiro, Raul C; Pui, Ching-Hon; Relling, Mary V; Evans, William E; Pang, Junfeng; Zhang, Shu; Yang, Ping; Hawkins-Lee, Bobbilynn; Zhong, Jixin; Zhang, Yushan; Ochoa, Bernardo; Agundez, Jose AG; Voelckel, Marie-Antoinette; Fisher, Richard B; Gu, Weikuan; Xiong, Wen-Cheng; Mei, Lin; She, Jin-Xiong; Wang, Cong-Yi