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

A Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia

北美地区针对恶性高热风险人群的基因检测方案建议

Riazi, Sheila; Watt, Stacey; Plester, Jennifer; Biesecker, Leslie G

Scanned SQUID microscope with high-speed electrical connectivity

具有高速电连接的扫描式超导量子干涉器件(SQUID)显微镜

Haygood, Ian W; Xu, Bochao; Biesecker, John; Schneider, Michael L

4D-Printed Smart Materials in Clear Aligner Fabrication: A Comprehensive Review: -

4D打印智能材料在透明矫正器制造中的应用:一项综合综述:

Walker, A P; Scott, J A; Biesecker, B B; Conover, B; Blake, W; Djurdjinovic, L; Ebrahimi, Hossein; Khosravi, Setareh

A spatial transcriptomics dataset of pancreas sections in normal glucose tolerance and type 2 diabetic donors.

正常葡萄糖耐量和 2 型糖尿病供体胰腺切片的空间转录组学数据集

Howell Nick, Weiss Zoe, Bonnycastle Lori L, Grenko Caleb M, Randazzo Davide, Dampier Christopher H, Sinha Neelam, Narisu Narisu, Swift Amy J, Erdos Michael R, Biesecker Leslie G, Collins Francis S, Robertson Catherine C, Taylor D Leland

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

孤立性侧向过度生长与肿瘤筛查的必要性:美国医学遗传学和基因组学学会 (ACMG) 的临床实践资源

Erwin, Angelika L; El Haija, Aya Abu; Bennett, James T; Biesecker, Leslie G; Deardorff, Matthew A; Hathaway, Evan R; Li, Marilyn M; Martinez-Agosto, Julian; Walsh, Michael; Kalish, Jennifer M

Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results

针对不同及服务不足的儿科人群进行基因组测序:家长对结果的理解、不确定性、社会心理影响及个人实用性的看法

Biesecker, Barbara B; Ackerman, Sara L; Brothers, Kyle B; East, Kelly M; Foreman, Ann Katherine M; Hindorff, Lucia A; Horowitz, Carol R; Jarvik, Gail P; Knight, Sara J; Leo, Michael C; Patrick, Donald L; Rini, Christine; Robinson, Jill O; Sahin-Hodoglugil, Nuriye Nalan; Slavotinek, Anne; Suckiel, Sabrina A; Veenstra, David L; Zinberg, Randi E; Hunter, Jessica Ezzell

Tumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and series

AKT1相关Proteus综合征的肿瘤谱:临床报告和系列研究的系统评价

Rostagni, Olivia M; Early, Charlotte Lr; Hodges, Mia B; Obasohan, Justice O; Sapp, Julie C; Livinski, Alicia A; Biesecker, Leslie G; Ours, Christopher A

Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility

校准用于RYR1相关恶性高热易感性变异分类的功能性检测

Ying, Evan Z; Douglass, Amber; Hawari, Marwan A; Groom, Linda; Stowell, Kathryn; Dirksen, Robert T; Johnston, Jennifer J; Biesecker, Leslie G

Symposium report-ethical and social considerations regarding return of secondary findings in atomic bomb survivors

研讨会报告——关于向原子弹幸存者报告次要发现的伦理和社会考量

Yoshida, Noriaki; Stewart, Douglas R; Uchimura, Arikuni; Arita, Ken-Ichi; Bombard, Yvonne; Frone, Megan; Hinoi, Takao; Kamiya, Kenji; Katamine, Shigeru; Kayukawa, Junji; Kodama, Kazunori; Miller, David T; Miura, Kiyonori; Muto, Kaori; Nagami, Fuji; Nakagawa, Hidewaki; Noda, Asao; Ohishi, Waka; Tanabe, Osamu; Terao, Chikashi; Rajaraman, Preetha; Kato, Kazuto; Biesecker, Leslie G

Evaluation of face validity and core concepts of a novel knowledge scale for inherited heart disease: A pilot study

对一种新型遗传性心脏病知识量表的表面效度和核心概念进行评估:一项初步研究

Christian, Susan; Dzwiniel, Tara; Baker, Amy; Biesecker, Barbara; Borle, Kennedy; Mostafavi, Roya; Slamon, Jill; Wand, Hannah; Yeates, Laura