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

Mondo: integrating disease terminology across communities

Mondo:整合跨社区的疾病术语

Vasilevsky, Nicole A; Toro, Sabrina; Matentzoglu, Nicolas; Flack, Joseph E; Mullen, Kathleen R; Hegde, Harshad; Gehrke, Sarah; Whetzel, Patricia L; Shwetar, Yousif; Harris, Nomi L; Ngu, Mee S; Alyea, Gioconda L; Kane, Megan S; Roncaglia, Paola; Sid, Eric; Thaxton, Courtney L; Wood, Valerie; Abraham, Roshini S; Achatz, Maria Isabel; Ajuyah, Pamela; Amberger, Joanna S; Babb, Lawrence; Baker, Jasmine; Balhoff, James P; Berg, Jonathan S; Bhalla, Amol; Bofill-De Ros, Xavier; Braun, Ian R; Broeren, Eleanor C; Byer, Blake K; Byrne, Alicia B; Callahan, Tiffany J; Carmody, Leigh C; Chan, Lauren E; Clause, Amanda R; Cohen, Julie S; DeLuca, Marcello; Deuitch, Natalie T; Flowers, May; Fraser, Jamie; Fujiwara, Toyofumi; Gitau, Vanessa; Goldstein, Jennifer L; Gration, Dylan; Groza, Tudor; Gyori, Benjamin M; Hankey, William; Hilton, Jason A; Himmelstein, Daniel S; Hong, Stephanie S; Hoyt, Charles T; Huether, Robert; Hurwitz, Eric; Jacobsen, Julius O B; Kikuchi, Atsuo; Köhler, Sebastian; Korn, Daniel R; Lagorce, David; Laraway, Bryan J; Li, Jane Y; Malheiro, Adriana J; McLaughlin, James; Meldal, Birgit H M; Mohan, Shruthi; Moxon, Sierra A T; Munoz-Torres, Monica C; Nelson, Tristan H; Nicholas, Frank W; Ochoa, David; Olson, Daniel; Oprea, Tudor I; Oskotsky, Tomiko T; Osumi-Sutherland, David; Paris, Kelley; Parkinson, Helen E; Pendlington, Zoë M; Peng, Xiao P; Pizzino, Amy; Plon, Sharon E; Powell, Bradford C; Ratliff, Julie C; Rehm, Heidi L; Remennik, Lyubov; Riggs, Erin R; Roberts, Sean; Robinson, Peter N; Ross, Justyne E; Schaper, Kevin; Schilder, Brian M; Schmidt, Johanna L; Sharp, Elliott W; Similuk, Morgan N; Smedley, Damian; Sneddon, Tam P; Sparks, Rachel; Stefancsik, Ray; Stupp, Gregory S; Sundar, Shilpa; Takatsuki, Terue; Tammen, Imke; Tshering, Kezang C; Unni, Deepak R; Valasek, Eloise; Vanderver, Adeline; Wagner, Alex H; Webb, Ryan F; Welter, Danielle; Yaya-Stupp, Doron; Zankl, Andreas; Zhang, Xingmin Aaron; McMurry, Julie A; Chute, Christopher G; Hamosh, Ada; Mungall, Christopher J; Haendel, Melissa A

Pan beriberi in a Young Male: A Case Report

年轻男性脚气病:病例报告

Yangzom, Sonam; Wangmo, Dechen; Dolkar, Diki; Tshomo, Kezang; Pelden, Dechen; Kelzang, Tenzin

Evaluation of drinking water quality and health risk assessment in rural primary schools along the Thai Myanmar border

对泰缅边境农村小学饮用水水质及健康风险进行评估

Choda, Kezang; Sangkarak, Sirirat; Maneekan, Pannamas; Prangthip, Pattaneeya; Ittisupornrat, Suda; Eaktasang, Numfon; Kittipongvises, Suthirat; Lohwacharin, Jenyuk; Phetrak, Athit

Correct Information Units in Narrative Discourse as an Indicator of Dementia

叙事话语中正确的信息单元作为痴呆症的指标

Yangchen; Pandian, Jeyaraj D; Tenzin, Tashi; Shao, Ruitai; Dhakal, Guru P; Rai, Nar B; Yangzom, Sonam; Tshering, Kezang; Sebastian, Ivy A; Gandhi, Dorcas; Dorji, Gampo; Wangchuk, Tshenday; Tenzin, Karma; Singh, Purnima; Saleem, Heba; Fernandez, Cornelius; Yahia, Seifeldin Ellibaih; Venugopal, Aparna Lalana; V.P, Vandana; Ramakrishnan, Subasree; Arshad, Faheem; Alladi, Suvarna

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor C; Gitau, Vanessa N; Byrne, Alicia B; Ajuyah, Pamela; Balzotti, Marie B; Berg, Jonathan S; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan T; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica X; Chopra, Maya; Clause, Amanda R; DiStefano, Marina T; DiTroia, Stephanie; Elnagheeb, Marwa A; Girod, Amanda N; Goel, Himanshu; Golden-Grant, Katie L; Ha, Thuong; Hamosh, Ada; Huang, Jennifer M; Hughes, Madeline Y; Jamuar, Saumya S; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda N T; Leigh, Sarah E; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah R; Milewski, Becky; Moosa, Shahida; Murray, Stephen A; Owens, Emma H; Palmer, Elizabeth E; Palus, Brooke C; Patel, Mayher J; Rajkumar, Revathi; Ratliff, Julie C; Raymond, F Lucy; Della Ripa Rodrigues Assis, Bruno; Sajan, Samin A; Schlachetzki, Zinayida; Schmidt, Sarah A; Stark, Zornitza; Strom, Samuel P; Taylor, Julie P; Thaxton, Courtney; Thrush, Devon L; Toro, Sabrina; Tshering, Kezang C; Vasilevsky, Nicole A; Wayburn, Bess; Webb, Ryan F; O'Donnell-Luria, Anne; Coffey, Alison J

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

来自 ClinGen RASopathy 专家组的最新 ACMG/AMP 变异解读和基因注释规范

Wilcox, Emma H; Webb, Ryan F; Tshering, Kezang C; Hughes, Madeline Y; Cavé, Hélène; DiStefano, Marina T; Dziadzio, Hannah; Garber, Kate; Gelb, Bruce D; Gripp, Karen W; Ichikawa, Shoji; Lee, Jennifer A; McCurry, Hannah; Tartaglia, Marco; Williams, Bradley; Zenker, Martin; Vincent, Lisa M; Mason-Suares, Heather

Ceftriaxone use evaluation at the Medical Ward, Jigme Dorji Wangchuck National Referral hospital in Bhutan: A retrospective analytical study

不丹吉格梅·多吉·旺楚克国家转诊医院内科病房头孢曲松使用情况评估:一项回顾性分析研究

Tshering, Kezang; Gurung, Mongal Singh; Wangda, Sonam; Chejor, Pelden

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor; Gitau, Vanessa; Byrne, Alicia; Ajuyah, Pamela; Balzotti, Marie; Berg, Jonathan; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica; Chopra, Maya; Clause, Amanda; DiStefano, Marina; DiTroia, Stephanie; Elnagheeb, Marwa; Girod, Amanda; Goel, Himanshu; Golden-Grant, Katie; Ha, Thuong; Hamosh, Ada; Huang, Jennifer; Hughes, Madeline; Jamuar, Saumya; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda; Leigh, Sarah; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah; Milewski, Becky; Moosa, Shahida; Murray, Stephen; Owens, Emma; Palmer, Emma; Palus, Brooke; Patel, Mayher; Rajkumar, Revathi; Ratliff, Julie; Raymond, F Lucy; Assis, Bruno Della Ripa Rodrigues; Sajan, Samin; Schlachetzki, Zinayida; Schmidt, Sarah; Stark, Zornitza; Strom, Samuel; Taylor, Julie; Thaxton, Courtney; Thrush, Devon; Toro, Sabrina; Tshering, Kezang; Vasilevsky, Nicole; Wayburn, Bess; Webb, Ryan; O'Donnell-Luria, Anne; Coffey, Alison J

Environmental, Occupational, and Demographic Risk Factors for Clinical Scrub Typhus, Bhutan

不丹临床恙虫病的环境、职业和人口统计学风险因素

Zangpo, Tandin; Phuentshok, Yoenten; Dorji, Kezang; Dorjee, Chencho; Dorjee, Sithar; Jolly, Peter; Morris, Roger; Marquetoux, Nelly; McKenzie, Joanna

Psychological impact during COVID-19 pandemic: A web-based cross-sectional study among students studying at College of Science and Technology (CST), Phuentsholing, Bhutan

新冠疫情期间的心理影响:一项针对不丹普恩乔林科学技术学院(CST)学生的网络横断面研究

Tshering, Kezang; Dema, Kezang