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

Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine

基因组医学变异科学家的基本情况、培训、职责和职业发展调查

Dickson, Alexa; Cone, Kelsey R; Fortini, Barbara K; Goldstein, Jennifer; Thompson, Michelle L; Wilke, Matheus V M B; Hurst, Anna C E; Schroeder, Molly C; Polonis, Katarzyna; Bowling, Kevin M

Contrasting effects of acute versus chronic intermittent hypoxia on leptin secretion in differentiated human adipocytes - Implications for sleep apnea

急性与慢性间歇性缺氧对分化的人类脂肪细胞中瘦素分泌的不同影响——对睡眠呼吸暂停的启示

Somers, Kiran R; Becari, Christiane; Polonis, Katarzyna; Singh, Prachi

Assessing Machine Learning for Diagnostic Classification of Hypertension Types Identified by Ambulatory Blood Pressure Monitoring

评估机器学习在动态血压监测识别的高血压类型诊断分类中的应用

Tran, Tran Quoc Bao; Lip, Stefanie; du Toit, Clea; Kalaria, Tejas Kumar; Bhaskar, Ravi K; O'Neil, Alison Q; Graff, Beata; Hoffmann, Michał; Szyndler, Anna; Polonis, Katarzyna; Wolf, Jacek; Reddy, Sandeep; Narkiewicz, Krzysztof; Dasgupta, Indranil; Dominiczak, Anna F; Visweswaran, Shyam; McCallum, Linsay; Padmanabhan, Sandosh

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

涉及 PITX2 的复杂平衡染色体内重排被确定为 Axenfeld-Rieger 综合征的病因

Farris Joseph, Khanna Cheryl, Smadbeck James B, Johnson Sarah H, Bothun Erick, Kaplan Tyler, Hoffman Francis, Polonis Katarzyna, Oliver Gavin, Reis Linda M, Semina Elena V, Rust Laura, Hoppman Nicole L, Vasmatzis George, Marcou Cherisse A, Schimmenti Lisa A, Klee Eric W

MMP-2 and MMP-9 levels in plasma are altered and associated with mortality in COVID-19 patients

新冠肺炎患者血浆中MMP-2和MMP-9水平发生改变,且与死亡率相关。

D Avila-Mesquita, Carolina; Couto, Ariel E S; Campos, Ligia C B; Vasconcelos, Tauana F; Michelon-Barbosa, Jessyca; Corsi, Carlos A C; Mestriner, Fabiola; Petroski-Moraes, Bruno C; Garbellini-Diab, Maria J; Couto, Daniel M S; Jordani, Maria C; Ferro, Denise; Sbragia, Lourenço; Joviliano, Edwaldo E; Evora, Paulo R; Carvalho Santana, Rodrigo de; Martins-Filho, Olindo Assis; Polonis, Katarzyna; Menegueti, Mayra G; Ribeiro, Mauricio S; Auxiliadora-Martins, Maria; Becari, Christiane

Epilepsy and hypertension: The possible link for sudden unexpected death in epilepsy?

癫痫和高血压:癫痫患者猝死的可能联系?

Szczurkowska, Patrycja J; Polonis, Katarzyna; Becari, Christiane; Hoffmann, Michał; Narkiewicz, Krzysztof; Chrostowska, Marzena

Telomere Length and Risk of Major Adverse Cardiac Events and Cancer in Obstructive Sleep Apnea Patients

端粒长度与阻塞性睡眠呼吸暂停患者发生重大不良心脏事件和癌症的风险

Polonis, Katarzyna; Sompalli, Sreeja; Becari, Christiane; Xie, Jiang; Covassin, Naima; Schulte, Phillip J; Druliner, Brooke R; Johnson, Ruth A; Narkiewicz, Krzysztof; Boardman, Lisa A; Singh, Prachi; Somers, Virend K

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

一名儿童同时存在母系遗传的 DNMT3A 重复和父系遗传的 EZH2 致病变异,表现为生长迟缓和严重矮小:这是非典型韦弗综合征还是 DNMT3A 剂量效应的证据?

Polonis, Katarzyna; Blackburn, Patrick R; Urrutia, Raul A; Lomberk, Gwen A; Kruisselbrink, Teresa; Cousin, Margot A; Boczek, Nicole J; Hoppman, Nicole L; Babovic-Vuksanovic, Dusica; Klee, Eric W; Pichurin, Pavel N

Moderate-to-severe obstructive sleep apnea is associated with telomere lengthening

中重度阻塞性睡眠呼吸暂停与端粒延长有关

Polonis, Katarzyna; Somers, Virend K; Becari, Christiane; Covassin, Naima; Schulte, Phillip J; Druliner, Brooke R; Johnson, Ruth A; Narkiewicz, Krzysztof; Boardman, Lisa A; Singh, Prachi