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

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

Genetic Testing in the Management of Adult CKD

成人慢性肾脏病管理中的基因检测

Chebib, Fouad T; Wang, Xiangling; Udani, Suneel M; Westemeyer, Maggie; Clark, Dinah; Zhang, Zhiji; Bloom, Michelle S; Milo Rasouly, Hila; Kolupaeva, Victoria; Mizani, Mohammad R; Dossabhoy, Neville R; Faravardeh, Arman; Demko, Zachary P; Kotte, Sri; Punj, Sumit; Chapman, Steven L; Rabinowitz, Matthew; Schneider, Ronen; Tabriziani, Hossein; Bhorade, Sangeeta; Gharavi, Ali G; Dahl, Neera K

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study

儿童肾囊肿的单基因病因:一项观察性队列研究

Bozkurt, Elif G; Sheikh Najeeb, Mohamad; Yang, Hana; Kemppainen, Jennifer L; Smith, Byron H; Gregory, Adriana V; Baker, Tracy A; Thompson, Whitney S; Khalifa, Muhammed; Cruz, Conrad; Kouri, Anne M; Tran, Cheryl L; Sas, David J; Cramer, Carl H; Dahl, Neera K; Kline, Timothy L; Torres, Vicente E; Chebib, Fouad T; Harris, Peter C; Hanna, Christian

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

癫痫发作对携带致病性GABRB2和GABRB3变异的个体粗大运动功能障碍的预测价值

Ortiz, Sebastian; Affronte, Leonardo; Bagliani, Chiara; El-Kamand, Serene; Kan, Anthony Sze Hon; Kristoffersen, Isabel T; Dahl, Rebekka S; Højte, Anne F; Auvin, Stéphane; Bouman, Arjan; Zeidler, Shimriet; Kluger, Gerhard; Lesca, Gaetan; Chatron, Nicolas; Goke-Samar, Zeynep; Papadopoulou, Maria T; Terzi, Matthildi Athina Papathanasiou; Schaefer, Elise; de Saint Martin, Anne; Baer, Sarah; Al Owain, Mohammed; Takroni, Saud; Al-Dhalaan, Hesham; Bonanni, Paolo; Rossi, Alessandra; Zanotta, Nicoletta; Trivisano, Marina; Specchio, Nicola; de Dominicis, Angela; Striano, Pasquale; Orsini, Alessandro; Mancardi, Maria Margherita; Neuens, Sebastian; Jennesson-Lyver, Melanie; Benkel-Herrenbrueck, Ira; Genevieve, David; Sidlow, Richard; Tezcan, Kamer; Krey, Ilona; Lemke, Johannes R; Platzer, Konrad; Lederer, Damien; Talvik, Inga; Vaher, Ulvi; Braun, Kees P J; Guerrot, Anne-Marie; More, Rebecca; De Wachter, Matthias; Weckhuysen, Sarah; Carapancea, Evelina; Cilio, Maria Roberta; Jacobs, Julia; Sterbova, Katalin; Balestrini, Simona; Guerrini, Renzo; Peroni, Giulio; Mero, Inger-Lise; ElNaggar, Walaa; Elkhateeb, Nour; Schmetz, Ariane; Chan, Denise L; Mirzaa, Ghayda M; Chaumette, Boris; Legrand, Adrien; McTague, Amy; Stödberg, Tommy; Harris, Rebekah V; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Gardella, Elena; Ahring, Philip K; Absalom, Nathan L; Møller, Rikke S

Contemporary management of advanced chronic kidney disease: An evidence-based review

晚期慢性肾脏病现代管理:循证综述

Baker, Lyle W; Ovincy, Cene; Souvalian, Levon; Hickson, LaTonya J; Chebib, Fouad T

Implant Therapy in Patients With Neurodegenerative Diseases-A Scoping Review

神经退行性疾病患者的植入治疗——范围综述

David, Lysandre; Maniewicz, Sabrina; Chebib, Najla; Gold, Gabriel; Srinivasan, Murali; Müller, Frauke

Deep Learning-Based Instance-Level Segmentation of Kidney and Liver Cysts in Computed Tomography Images of Patients Affected by Polycystic Kidney Disease

基于深度学习的多囊肾病患者计算机断层扫描图像中肾脏和肝脏囊肿的实例级分割

Gregory, Adriana V; Khalifa, Muhammed; Im, Jeeho; Ramanathan, Sumana; Elbarougy, Doaa E; Cruz, Conrad; Yang, Hana; Denic, Aleksandar; Rule, Andrew D; Chebib, Fouad T; Dahl, Neera K; Hogan, Marie C; Harris, Peter C; Torres, Vicente E; Erickson, Bradley J; Potretzke, Theodora A; Kline, Timothy L

Health and Wellness Coaching to Reduce Care Burden in Autosomal Dominant Polycystic Kidney Disease Care: A Mixed-Methods Pilot Study of BeWell360-PKD Dyadic Model

通过健康和保健指导减轻常染色体显性多囊肾病患者的护理负担:BeWell360-PKD 双元模型混合方法试点研究

Abu Dabrh, Abd Moain; Borghol, Abdul Hamid; Alkhatib, Bassel; Paul, Stefan; Li, Zhuo; Lehman, Wendi M; Mao, Michael A; Hickson, LaTonya; Chebib, Fouad T

Reframing kidney care: toward whole person, integrative, and minimally disruptive healthcare delivery

重新定义肾脏护理:迈向以人为本、整合式、干扰最小的医疗保健服务

Abu Dabrh, Abd Moain; Chebib, Fouad T; Hickson, LaTonya J

Autosomal Dominant Polycystic Kidney Disease: A Review

常染色体显性多囊肾病:综述

Chebib, Fouad T; Hanna, Christian; Harris, Peter C; Torres, Vicente E; Dahl, Neera K