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

Converting heat to electricity with non-linear pyroelectrics: A review

利用非线性热释电材料将热能转化为电能:综述

Aravindhan, Ashwath; Kovacova, Veronika; Defay, Emmanuel

Light-Annealed Piezoelectric Films on Flexible Glass

柔性玻璃上的光退火压电薄膜

Cardoletti, Juliette; Song, Longfei; Philippe, Adrian-Marie; Girod, Stéphanie; Malič, Barbara; Defay, Emmanuel; Glinšek, Sebastjan

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial

BeginNGS新生儿基因组测序筛查与标准新生儿筛查在严重儿童遗传疾病筛查中的临床实用性和成本效益:一项适应性、国际性和比较性临床试验

Reimers, Rebecca; Bailey, Miranda; Brown, Chester; Chan, Kee; Defay, Tom; Finkel, Terri; Kahn, Scott; Protopsaltis, Liana; Stoddard, Lauren; Talati, Ajay J; Wigby, Kristen; Akil, Ammira Sarah Al-Shabeeb; Wright, Meredith; Kingsmore, Stephen F

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial

在新生儿重症监护室(NICU)的试点试验中,基于基因组的新生儿筛查对严重儿童遗传疾病具有较高的阳性预测值和敏感性。

Kingsmore, Stephen F; Wright, Meredith; Olsen, Lauren; Schultz, Brandan; Protopsaltis, Liana; Averbuj, Dan; Blincow, Eric; Carroll, Jeanne; Caylor, Sara; Defay, Thomas; Ellsworth, Katarzyna; Feigenbaum, Annette; Gover, Mia; Guidugli, Lucia; Hansen, Christian; Van Der Kraan, Lucita; Kunard, Chris M; Kwon, Hugh; Madhavrao, Lakshminarasimha; Leipzig, Jeremy; Liang, Yupu; Mardach, Rebecca; Mowrey, William R; Nguyen, Hung; Niemi, Anna-Kaisa; Oh, Danny; Saad, Muhammed; Scharer, Gunter; Schleit, Jennifer; Mehtalia, Shyamal S; Sanford, Erica; Smith, Laurie D; Willis, Mary J; Wigby, Kristen; Reimers, Rebecca

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

通过基于纯化超选择的联邦训练,对基于基因组的新生儿筛查进行严重儿童遗传疾病的预认证

Kingsmore Stephen F, Wright Meredith, Smith Laurie D, Liang Yupu, Mowrey William R, Protopsaltis Liana, Bainbridge Matthew, Baker Mei, Batalov Sergey, Blincow Eric, Cao Bryant, Caylor Sara, Chambers Christina, Ellsworth Katarzyna, Feigenbaum Annette, Frise Erwin, Guidugli Lucia, Hall Kevin P, Hansen Christian, Kiel Mark, Van Der Kraan Lucita, Krilow Chad, Kwon Hugh, Madhavrao Lakshminarasimha, Lefebvre Sebastien, Leipzig Jeremy, Mardach Rebecca, Moore Barry, Oh Danny, Olsen Lauren, Ontiveros Eric, Owen Mallory J, Reimers Rebecca, Scharer Gunter, Schleit Jennifer, Shelnutt Seth, Mehtalia Shyamal S, Oriol Albert, Sanford Erica, Schwartz Steve, Wigby Kristen, Willis Mary J, Yandell Mark, Kunard Chris M, Defay Thomas

Large pyroelectric energy conversion in lead scandium tantalate thin films

铅钪钽酸盐薄膜中的大热释电能量转换

Aravindhan, Ashwath; Glinsek, Sebastjan; Girod, Stephanie; Blazquez Martinez, Alfredo; Granzow, Torsten; Kovacova, Veronika; Defay, Emmanuel

Functional Characterization of Splice Variants in the Diagnosis of Albinism

白化病诊断中剪接变异体的功能表征

Modibo Diallo,Cécile Courdier,Elina Mercier,Angèle Sequeira,Alicia Defay-Stinat,Claudio Plaisant,Shahram Mesdaghi,Daniel Rigden,Sophie Javerzat,Eulalie Lasseaux,Laetitia Bourgeade,Séverine Audebert-Bellanger,Hélène Dollfus,Smail Hadj-Rabia,Fanny Morice-Picard,Manon Philibert,Mohamed Kole Sidibé,Vasily Smirnov,Ousmane Sylla,Vincent Michaud,Benoit Arveiler

Neisseria gonorrhoeae treatment failure to the recommended antibiotic regimen-Québec, Canada, 2015-19

2015-19 年加拿大魁北克省淋病奈瑟菌感染患者对推荐抗生素方案治疗失败

Blouin, Karine; Lefebvre, Brigitte; Trudelle, Annick; Defay, Fannie; Perrault-Sullivan, Gentiane; Gnimatin, Jean-Pierre; Labbé, Annie-Claude

Response to Grosse et al

对 Grosse 等人的回应

Kingsmore, Stephen F; Smith, Laurie D; Kunard, Chris M; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo; Dimmock, David P; Ding, Yan; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Green, Robert C; Guidugli, Lucia; Hall, Kevin P; Hansen, Christian; Hobbs, Charlotte A; Kahn, Scott D; Kiel, Mark; Van Der Kraan, Lucita; Krilow, Chad; Kwon, Yong H; Madhavrao, Lakshminarasimha; Le, Jennie; Lefebvre, Sebastien; Mardach, Rebecca; Mowrey, William R; Oh, Danny; Owen, Mallory J; Powley, George; Scharer, Gunter; Shelnutt, Seth; Tokita, Mari; Mehtalia, Shyamal S; Oriol, Albert; Papadopoulos, Stavros; Perry, James; Rosales, Edwin; Sanford, Erica; Schwartz, Steve; Tran, Duke; Reese, Martin G; Wright, Meredith; Veeraraghavan, Narayanan; Wigby, Kristen; Willis, Mary J; Wolen, Aaron R; Defay, Thomas

Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

扩大遗传资源规模:罕见遗传病诊断和治疗的新范式

Vockley, Jerry; Defay, Thomas; Goldenberg, Aaron J; Gaviglio, Amy M