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

The Contact Conundrum: Are We Introducing Contact at the Correct Time in Youth Sports?

接触难题:我们是否在青少年体育运动中引入了正确的接触方式?

West, Stephen W; Hendricks, Sharief; Cumming, Sean P; Dane, Kathryn; O'Connor, Siobhán; Jones, Ben; Patterson, Brooke; Kolstad, Ash T; Broglio, Steven; Emery, Carolyn A; McKay, Carly D

Recombinant ADAMTS13: An Enzyme Replacement Therapy for the Management of Congenital Thrombotic Thrombocytopenic Purpura

重组ADAMTS13:一种用于治疗先天性血栓性血小板减少性紫癜的酶替代疗法

Robichaux, Taylor P; Dane, Kathryn E; Parish, P Christopher; Arnall, Justin R; Moore, Donald C

Lung Function in a Multiethnic U.S. Cohort of Adolescents and Adults Born Preterm in the New BPD Era

新支气管肺发育不良时代美国多民族早产青少年和成人队列的肺功能

Sanchez-Solano, Nataly J; Wall, Tyler J; Barton, Gregory P; Dane, Dan M; Hsia, Connie C W; Goss, Kara N

Identification and analyses of exonic and copy number variants in spastic paraplegia

痉挛性截瘫中外显子和拷贝数变异的鉴定和分析

Shafique, Anum; Nadeem, Ayesha; Aslam, Faiza; Manzoor, Humera; Noman, Muhammad; Wohler, Elizabeth; Witmer, P Dane; Sobreira, Nara; Naz, Sadaf

Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex

在膀胱外翻-尿道上裂复合体中发现罕见的CELSR3外显子变异

Jelin, Angie C; Sopko, Nikolai; Sobreira, Nara; Boyadjiev, Simeon A; Wohler, Elizabeth; Morrill, Christian; Witmer, P Dane; Michaud, Jason; Valle, David; Gearhart, John; Dicarlo, Heather

Exeporfinium chloride (XF-73) nasal gel dosed over 24 hours prior to surgery significantly reduced Staphylococcus aureus nasal carriage in cardiac surgery patients: Safety and efficacy results from a randomized placebo-controlled phase 2 study

术前24小时内使用依昔泊芬氯化物(XF-73)鼻凝胶可显著降低心脏手术患者鼻腔内金黄色葡萄球菌的携带率:一项随机安慰剂对照II期研究的安全性和有效性结果

Mangino, Julie E; Firstenberg, Michael S; Milewski, Rita K C; Rhys-Williams, William; Lees, James P; Dane, Aaron; Love, William G; Gonzalez Moreno, Jesus

Variants of human CLDN9 cause mild to profound hearing loss

人类CLDN9基因变异会导致轻度至重度听力损失。

Memoona Ramzan,Christophe Philippe,Inna A Belyantseva,Yoko Nakano,Cristina Fenollar-Ferrer,Risa Tona,Rizwan Yousaf,Rasheeda Basheer,Ayesha Imtiaz,Rabia Faridi,Zunaira Munir,Hafiza Idrees,Midhat Salman,Sophie Nambot,Antonio Vitobello,Souad Kartti,Oumaima Zarrik,P Dane Witmer,Nara Sobreria,Azeddine Ibrahimi,Botond Banfi,Sebastien Moutton,Thomas B Friedman,Sadaf Naz

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

针对临床诊断为杜博维茨综合征患者的替代基因组诊断方法

Dyment, David A; O'Donnell-Luria, Anne; Agrawal, Pankaj B; Coban Akdemir, Zeynep; Aleck, Kyrieckos A; Antaki, Danny; Al Sharhan, Hind; Au, Ping-Yee B; Aydin, Hatip; Beggs, Alan H; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A; Buyske, Steve; Chodirker, Bernard; Choi, Jungmin; Chudley, Albert E; Clericuzio, Carol L; Cox, Gerald F; Curry, Cynthia; de Boer, Elke; de Vries, Bert B A; Dunn, Kathryn; Dutmer, Cullen M; England, Eleina M; Fahrner, Jill A; Geckinli, Bilgen B; Genetti, Casie A; Gezdirici, Alper; Gibson, William T; Gleeson, Joseph G; Greenberg, Cheryl R; Hall, April; Hamosh, Ada; Hartley, Taila; Jhangiani, Shalini N; Karaca, Ender; Kernohan, Kristin; Lauzon, Julie L; Lewis, M E Suzanne; Lowry, R Brian; López-Giráldez, Francesc; Matise, Tara C; McEvoy-Venneri, Jennifer; McInnes, Brenda; Mhanni, Aziz; Garcia Minaur, Sixto; Moilanen, Jukka; Nguyen, An; Nowaczyk, Malgorzata J M; Posey, Jennifer E; Õunap, Katrin; Pehlivan, Davut; Pajusalu, Sander; Penney, Lynette S; Poterba, Timothy; Prontera, Paolo; Doriqui, Maria Juliana Rodovalho; Sawyer, Sarah L; Sobreira, Nara; Stanley, Valentina; Torun, Deniz; Wargowski, David; Witmer, P Dane; Wong, Isaac; Xing, Jinchuan; Zaki, Maha S; Zhang, Yeting; Boycott, Kym M; Bamshad, Michael J; Nickerson, Deborah A; Blue, Elizabeth E; Innes, A Micheil

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

腺苷脱氨酶 2 (DADA2) 缺乏症:隐藏变异、外显率降低和不寻常的遗传

Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K Ombrello, Drew G Michael, Natalie Deuitch, Karyl Barron, Deborah L Stone, Patrycja Hoffmann, Michael Hershfield, Carolyn Applegate, Hans T Bjornsson, David B Beck, P Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A Chiorini, The Americ

The utility of exome sequencing for fetal pleural effusions

外显子组测序在胎儿胸腔积液诊断中的应用

Jelin, Angie C; Sobreira, Nara; Wohler, Elizabeth; Solomon, Benjamin; Sparks, Teresa; Sagaser, Katelynn G; Forster, Katherine R; Miller, Jena; Witmer, P Dane; Hamosh, Ada; Valle, David; Blakemore, Karin