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

ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting Challenges

ONT在重复序列扩增疾病临床诊断中的应用:检测和报告挑战

Kaplun, Ludmila; Krautz-Peterson, Greice; Neerman, Nir; Schindler, Yocheved; Dehan, Elinor; Huettner, Claudia S; Baumgartner, Brett K; Stanley, Christine; Kaplun, Alexander

Gynecologic and obstetric complications in women with congenital fibrinogen disorders: insights from the Prospective Rare Bleeding Disorders Database

先天性纤维蛋白原疾病女性的妇科和产科并发症:来自前瞻性罕见出血性疾病数据库的启示

Mohsenian, Samin; Palla, Roberta; Menegatti, Marzia; Cairo, Andrea; Siboni, Simona Maria; Neerman-Arbez, Marguerite; Karimi, Mehran; Pargantou, Helen; Asselta, Rosanna; Mikovic, Danijela; Saracevic, Marko; Laros-van Gorkom, Britta; Jacobs, Laura; Shapiro, Amy; Williamson, Adrianna; Makris, Michael; Casini, Alessandro; Peyvandi, Flora

Photobiomodulation in dentistry: Mechanisms, clinical applications and evidence-based guidelines

光生物调节在牙科中的应用:机制、临床应用和循证指南

Eltahir, Lana; Elgendy, Moustafa; Ali, Gaya; Elamin, Abrar; Omer, Sarah; Khazam, Neerman

Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database

先天性纤维蛋白原疾病:前瞻性罕见出血性疾病数据库的回顾性临床和遗传分析

Mohsenian, Samin; Palla, Roberta; Menegatti, Marzia; Cairo, Andrea; Lecchi, Anna; Casini, Alessandro; Neerman-Arbez, Marguerite; Asselta, Rosanna; Scardo, Sara; Siboni, Simona Maria; Blatny, Jan; Zapletal, Ondrej; Schved, Jean-Francois; Giansily-Blaizot, Muriel; Halimeh, Susan; Daoud, Mohamad Ayman; Platokouki, Helen; Pergantou, Helen; Schutgens, Roger E G; Van Haaften-Spoor, Monique; Brons, Paul; Laros-van Gorkom, Britta; Van Pinxten, Elise; Borhany, Munira; Fatima, Naveena; Mikovic, Danijela; Saracevic, Marko; Özdemir, Gül Nihal; Ay, Yılmaz; Makris, Michael; Lockley, Caryl; Mumford, Andrew; Harvey, Andrew; Austin, Steve; Shapiro, Amy; Williamson, Adrianna; McGuinn, Catherine; Goldberg, Ilene; De Moerloose, Philippe; Peyvandi, Flora

Composition of thrombi in zebrafish: similarities and distinctions with mammals

斑马鱼血栓的组成:与哺乳动物的异同

Griffin, Megan S; Dahlgren, Anna R; Nagaswami, Chandrasekaran; Litvinov, Rustem I; Keeler, Kevin; Madenjian, Charles; Fuentes, Ricardo; Fish, Richard J; Neerman-Arbez, Marguerite; Holinstat, Michael; Adili, Reheman; Weisel, John W; Shavit, Jordan A

Highly thrombogenic phenotype and impaired wound healing in a patient with congenital dysfibrinogenemia: case report

先天性异常纤维蛋白原血症患者表现出高度血栓形成表型和伤口愈合障碍:病例报告

El Beayni, Nancy; Szanto, Timea; Neerman-Arbez, Marguerite; Casini, Alessandro; Lassila, Riitta

Regulation of fibrinogen synthesis

纤维蛋白原合成的调节

Dobson, Dre'Von A; Fish, Richard J; de Vries, Paul S; Morrison, Alanna C; Neerman-Arbez, Marguerite; Wolberg, Alisa S

Diagnostic value of clot formation parameters determined by rotational thromboelastometry in 63 patients with congenital dysfibrinogenemia

旋转血栓弹力图测定的凝块形成参数在63例先天性纤维蛋白原异常血症患者中的诊断价值

Simurda, Tomas; Marchi, Rita; Casini, Alessandro; Neerman-Arbez, Marguerite; Drotarova, Miroslava; Skornova, Ingrid; Zolkova, Jana; Kolkova, Zuzana; Loderer, Dusan; Brunclikova, Monika; Belakova, Kristina Maria; Stasko, Jan

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

多基因检测和基因组检测中报告的意义未明变异(VUS)现状:是时候改变了

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle; Saunders, Carol J; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J; Thiffault, Isabelle; Thomas, Brittany C; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J; Towne, Meghan C; Zouk, Hana

ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing

ONT长读长全基因组测序用于变异发现,并对临床基因检测中短读长全基因组测序衍生的遗传变异进行正交验证

Kaplun, Ludmila; Krautz-Peterson, Greice; Neerman, Nir; Stanley, Christine; Hussey, Shane; Folwick, Margo; McGarry, Ava; Weiss, Shirel; Kaplun, Alexander