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

Phenotypic Characteristics of a Patient Cohort With Recessive Dystrophic Epidermolysis Bullosa and the Pathogenic Variant c.7485+5G>A in Intron 98 of COL7A1

携带隐性营养不良型大疱性表皮松解症和COL7A1基因第98内含子致病变异c.7485+5G>A的患者队列的表型特征

Pascual, Micah G; Cox, Hannah C; Larson, Austin; Bruckner, Anna L

The landscape of drug sensitivity and resistance in sarcoma.

肉瘤药物敏感性和耐药性概况

Al Shihabi Ahmad, Tebon Peyton J, Nguyen Huyen Thi Lam, Chantharasamee Jomjit, Sartini Sara, Davarifar Ardalan, Jensen Alexandra Y, Diaz-Infante Miranda, Cox Hannah, Gonzalez Alfredo Enrique, Norris Summer, Sperry Jantzen, Nakashima Jonathan, Tavanaie Nasrin, Winata Helena, Fitz-Gibbon Sorel T, Yamaguchi Takafumi N, Jeong Jae H, Dry Sarah, Singh Arun S, Chmielowski Bartosz, Crompton Joseph G, Kalbasi Anusha K, Eilber Fritz C, Hornicek Francis, Bernthal Nicholas M, Nelson Scott D, Boutros Paul C, Federman Noah C, Yanagawa Jane, Soragni Alice

Transverse Myelitis in a 72-Year-Old Male Presenting With Upper Extremity Weakness

一名72岁男性横贯性脊髓炎患者出现上肢无力症状

Cox, Hannah; Virgilio, Richard; Yuhico, Luke

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

ACMG/AMP 变异分类指南中关于种系 DICER1 变异注释的规范

Hatton, Jessica N; Frone, Megan N; Cox, Hannah C; Crowley, Stephanie B; Hiraki, Susan; Yokoyama, Noriko N; Abul-Husn, Noura S; Amatruda, James F; Anderson, Michael J; Bofill-De Ros, Xavier; Carr, Ann G; Chao, Elizabeth C; Chen, Kenneth S; Gu, Shuo; Higgs, Cecilia; Machado, Jerry; Ritter, Deborah; Schultz, Kris Ann; Soper, Emily R; Wu, Mona K; Mester, Jessica L; Kim, Jung; Foulkes, William D; Witkowski, Leora; Stewart, Douglas R

Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome

疑似林奇综合征患者的种系遗传学检测结果与肿瘤错配修复蛋白免疫组化染色异常之间存在不一致

Pan, Shujuan; Cox, Hannah; Willmott, Jamie; Mundt, Erin; Gorringe, Heidi; Landon, Michelle; Bowles, Karla R; Coffee, Bradford; Roa, Benjamin B; Mancini-DiNardo, Debora

The landscape of drug sensitivity and resistance in sarcoma

肉瘤药物敏感性和耐药性概况

Al Shihabi, Ahmad; Tebon, Peyton J; Nguyen, Huyen Thi Lam; Chantharasamee, Jomjit; Sartini, Sara; Davarifar, Ardalan; Jensen, Alexandra Y; Diaz-Infante, Miranda; Cox, Hannah; Gonzalez, Alfredo Enrique; Swearingen, Summer; Tavanaie, Nasrin; Dry, Sarah; Singh, Arun; Chmielowski, Bartosz; Crompton, Joseph G; Kalbasi, Anusha; Eilber, Fritz C; Hornicek, Francis; Bernthal, Nicholas; Nelson, Scott D; Boutros, Paul C; Federman, Noah; Yanagawa, Jane; Soragni, Alice

Using Subthreshold Vibratory Stimulation During Poststroke Rehabilitation Therapy: A Case Series

卒中后康复治疗中应用阈下振动刺激:病例系列研究

Vatinno, Amanda A; Hall, Lucion; Cox, Hannah; Fluharty, Alison; Taylor, Catilyn; Wease, Alexandra; Davis, Allison; Cain, Shannon; Ramakrishnan, Viswanathan; Woodbury, Michelle; Seo, Na Jin

Family history of breast cancer in men with non-BRCA male breast cancer: implications for cancer risk counseling

非BRCA基因突变男性乳腺癌患者的乳腺癌家族史:对癌症风险咨询的启示

Calip, Gregory S; Kidd, John; Bernhisel, Ryan; Cox, Hannah C; Saam, Jennifer; Rauscher, Garth H; Lancaster, Johnathan M; Hoskins, Kent F

Demographic and socioeconomic trends in DNA banking utilization in the USA

美国DNA库利用的人口和社会经济趋势

Prudent, Joshua; Lopez, Esthermarie; Dorshorst, Donna; Cox, Hannah C; Bodurtha, Joann N

A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically

利用新一代测序遗传性泛癌基因检测方法检测到的相当一部分表观杂合TP53致病变异是体细胞获得的。

Coffee, Bradford; Cox, Hannah C; Bernhisel, Ryan; Manley, Susan; Bowles, Karla; Roa, Benjamin B; Mancini-DiNardo, Debora