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

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

CPT1C功能缺失变异:不支持其在遗传性痉挛性截瘫中起因果作用

Zhu, Rui; Liu, Lang; Estiar, Mehrdad A; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Yoon, Grace; Tarnopolsky, Mark; Boycott, Kym M; Dupre, Nicolas; Dion, Patrick A; Suchowersky, Oksana; Jordanova, Albena; Lee, Yi-Chung; Stevanin, Giovanni; Zuchner, Stephan; Rouleau, Guy A; Gan-Or, Ziv

P-2058. Healthcare Utilization Before and After Enrollment in the New York City Health + Hospitals/Bellevue Health Equity Action Team, 2022-2024

P-2058. 2022-2024年纽约市健康与医院/贝尔维尤健康公平行动小组成员加入前后的医疗保健利用情况

Byhoff, Elena; Garg, Arvin; Pellicer, Michelle; Diaz, Yareliz; Yoon, Grace H; Charns, Martin P; Drainoni, Mari-Lynn; Meyer, Jaimie P; Price, Carolina R; Tracey, DeShana; Hernandez, Ana; Tucker, Natalie; Thayer, Bailey; Barakat, Lydia A; Patino-Mateus, Juan D; Ogunbayo, Olakunle; Rivera-Solis, Aimee Graciela; Soibi-Harry, Adaiah; Ordóñez, Claudia E; Ramon, Julian S; Traylor, Masonia; Aldredge, Amalia; Folkes, David; Gettings, Jenna; Mauck, Daniel; Terry, Latasha; Rangel, Eric; Sheth, Anandi N; Sales, Jessica; Scott, Jane Y; Saldana, Carlos S; Cheung, Allison W; Cormier, Mary; Grace, David; Scruggs-Wodkowski, Elizabeth A; Power, Laura; Alejandro, Heather; Greathouse, Michael; Redington, Chase; Eustaquio, Patrick; Olansky, Evelyn; Cha, Susan; Garcia, Karina; Gelin, Rose Bethanica; Frierson, Rayven; Sow, Djenabou; Gonzalez-Baez, Elinel; Johnson, Jennifer A; Koo, Sophia; Armijo, Priscila R; Ashraf, M Salman; Tarfa, Adati; Lyden, Elizabeth; Marcelin, Jasmine R; Ryder, Jonathan H; Wetherhold, Jeffrey; Kebede, Mahelet; Mandadi, Subhadra; Davis, Precious S; Delair, Shirley F; Cawcutt, Kelly; Jones, Andrea D; Qasimyar, Mahliqha; Etherton, Gale M; Stohs, Erica; Fadul, Nada; Wick, Jenna M; Pike, C William; Muralidharan, Jananee; Hui, Gavin; Furukawa, Daisuke; Urban, Cooper; Boockvar, Emma R; Medrano, Nicola; Felder, Jason; Augustin, Ashley; Knutsen, Dorothy; Mgbako, Ofole

Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia

外周血弗拉塔辛水平决定弗里德赖希共济失调的长期临床进展。

Rummey, Christian; Blair, Ian A; Mesaros, Clementina; Rojsajjakul, Teerapat; Dong, Yina; Wilmot, George; Zesiewicz, Theresa; Mathews, Kathy; Hoyle, Joseph C; Seeberger, Lauren; Corben, Louise A; Delatycki, Martin Bruce; Finkel, Richard S; Roxburgh, Richard H; Duquette, Antoine; Yoon, Grace; Gomez, Christopher M; Subramony, S H; Perlman, Susan; Mccormack, Shana; Lynch, David R

Effect of different recruiter attire on trial participation in Lesotho: a randomized study within a trial

不同招募人员着装对莱索托临床试验参与率的影响:一项试验中的随机研究

Yoon, Grace H; Stoffel, Sandro; Aghlmandi, Soheila; Lesaoana, Ntotiseng; Mahlatsi, Palesa; Chakela, Makobefo; Belus, Jennifer M; Briel, Matthias

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia

PTBP1 变异体表现出核质分布改变,是导致伴有骨骼发育不良的神经发育障碍的原因。

Masson, Aymeric; Paccaud, Julien; Orefice, Martina; Colin, Estelle; Mäkitie, Outi; Cormier-Daire, Valérie; Relator, Raissa; Ghosh, Sourav; Strub, Jean-Marc; Schaeffer-Reiss, Christine; Marcelis, Carlo; Koolen, David A; Pfundt, Rolph; de Boer, Elke; Vissers, Lisenka Elm; Gardeitchik, Thatjana; Aarts, Lonneke Am; Rinne, Tuula; Terhal, Paulien A; Verbeek, Nienke E; Zuurbier, Linda C; Plomp, Astrid S; Wessels, Marja W; de Man, Stella A; Bouman, Arjan; Bird, Lynne M; Saadeh-Haddad, Reem; Guillen Sacoto, Maria J; Person, Richard; Gooch, Catherine; Hurst, Anna Ce; Thompson, Michelle L; Hiatt, Susan M; Littlejohn, Rebecca O; Roeder, Elizabeth R; Mori, Mari; Hickey, Scott E; Hunter, Jesse M; Lee, Kristy; Osman, Khaled; Halloun, Rana; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Duplomb-Jego, Laurence; El It, Fatima; Duffourd, Yannis; Tran Mau-Them, Frédéric; Huber, Celine; Gordon, Christopher T; Taylan, Fulya; Mäkitie, Riikka E; Costantini, Alice; Valta, Helena; Robertson, Stephen; Poke, Gemma; Francoise, Michel; Ciolfi, Andrea; Tartaglia, Marco; Ekhilevitch, Nina; Zaid, Rinat; Levy, Michael A; Kerkhof, Jennifer; McConkey, Haley; Delanne, Julian; Chevarin, Martin; Vautrot, Valentin; Bourgeois, Valentin; Nguyen, Sylvie; Marle, Nathalie; Callier, Patrick; Safraou, Hana; Morgan, Angela; Amor, David J; Hildebrand, Michael S; Coman, David; Aubert Mucca, Marion; Thevenon, Julien; Laffargue, Fanny; Bilan, Frédéric; Pebrel-Richard, Céline; Yoon, Grace; Axford, Michelle M; Pérez-Jurado, Luis A; Sevilla-Porras, Marta; Black, Douglas L; Philippe, Christophe; Sadikovic, Bekim; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Ori, Michela; Thomas, Quentin; Vitobello, Antonio

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

星状蛋白的结构变异及其对表型和遗传的影响:由大片段缺失引起的显性远端表型的建立

Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A; Iannaccone, Susan T; Beggs, Alan H; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta

Clinicopathologic Characteristics of Intraglomerular Malignancy in Kidney Biopsies

肾活检中肾小球内恶性肿瘤的临床病理特征

Lee, Chen Yu Jamie; Nast, Cynthia C; Hou, Jean; Haas, Mark; Lin, Mercury Y; Yamashita, Michifumi; Choung, Hae Yoon Grace

Face-to-face, confidential and health worker-led: Understanding the preferences for behavioral health services among people with HIV in Lesotho

面对面、保密且由医护人员主导:了解莱索托艾滋病毒感染者对行为健康服务的偏好

Yoon, Grace H; Johnson, Natalie E; Mokebe, Moleboheng; Mahlatsi, Palesa; Lerotholi, Malebanye; Labhardt, Niklaus D; Tschumi, Nadine; van Heerden, Alastair; Belus, Jennifer M; Falgas-Bague, Irene

SMSs as an alternative to provider-delivered care for unhealthy alcohol use: study protocol for Leseli, an open-label randomised controlled trial of mhGAP-Remote vs mhGAP-Standard in Lesotho

短信作为医疗服务提供者提供的不健康饮酒护理的替代方案:Leseli 研究方案,一项在莱索托开展的开放标签随机对照试验,比较 mhGAP-Remote 与 mhGAP-Standard 的效果。

Belus, Jennifer M; Johnson, Natalie E; Yoon, Grace H; Tschumi, Nadine; Lerotholi, Malebanye; Falgas-Bague, Irene; Lee, Tristan T; Letsoela, Pearl; Magidson, Jessica F; Amstutz, Alain; Labhardt, Niklaus D