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

Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes

基因组和表观遗传检测在发育迟缓诊断评估中的整合:鉴别博耶森-福斯曼-莱曼综合征(BFLS)和怀特-克诺汉综合征(WHIKERS)

Ramsey, Keri; Prakash, Supraja; Kerkhof, Jennifer; Sadikovic, Bekim; White, Susan; Naymik, Marcus; Sloan, Jennifer; Bonfitto, Anna; Belnap, Newell; Sanchez-Castillo, Meredith; Jepsen, Wayne; Huentelman, Matthew; Bernes, Saunder; Narayanan, Vinodh; Kaur, Shagun

Predictors of operative management in diabetic foot ulcers

糖尿病足溃疡手术治疗的预测因素

Au, Amos; Yii, Erwin; Andric, Ana; Wong, Jennifer; Saunder, Alan; Yii, Ming

Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene

两个同父异母兄弟因遗传 306 Kb 的 10p15.1 反向插入到 DMD 基因 Dp427m 转录本的内含子 44 而患上杜氏肌营养不良症

Wayne M Jepsen, Andrew Fazenbaker, Keri Ramsey, Anna Bonfitto, Marcus Naymik, Bryce Turner, Jennifer Sloan, Nishant Tiwari, Saunder M Bernes, Derek E Neilson, Meredith Sanchez-Castillo, Matt J Huentelman, Vinodh Narayanan

Epithelioid neoplasm of the spinal cord in a child with spinal muscular atrophy treated with onasemnogene abeparvovec

一名患有脊髓性肌萎缩症的儿童,接受了onasemnogene abeparvovec治疗,结果发现其脊髓出现上皮样肿瘤。

Retson, Laura; Tiwari, Nishant; Vaughn, Jennifer; Bernes, Saunder; Adelson, P David; Mansfield, Keith; Libertini, Silvana; Kuzmiski, Brent; Alecu, Iulian; Gabriel, Richard; Mangum, Ross

The kidney failure risk equation predicts kidney failure: Validation in an Australian cohort

肾衰竭风险方程预测肾衰竭:在澳大利亚人群中的验证

Irish, Georgina L; Cuthbertson, Laura; Kitsos, Alex; Saunder, Tim; Clayton, Philip A; Jose, Matthew D

Quality use of medicines in patients with chronic kidney disease

慢性肾病患者合理用药

Castelino, Ronald L; Saunder, Timothy; Kitsos, Alex; Peterson, Gregory M; Jose, Matthew; Wimmer, Barbara; Khanam, Masuma; Bezabhe, Woldesellassie; Stankovich, Jim; Radford, Jan

GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment

婴儿脊髓性肌萎缩症中的GARS相关疾病:对诊断和治疗的启示

Markovitz, Rebecca; Ghosh, Rajarshi; Kuo, Molly E; Hong, William; Lim, Jaehyung; Bernes, Saunder; Manberg, Stephanie; Crosby, Kathleen; Tanpaiboon, Pranoot; Bharucha-Goebel, Diana; Bonnemann, Carsten; Mohila, Carrie A; Mizerik, Elizabeth; Woodbury, Suzanne; Bi, Weimin; Lotze, Timothy; Antonellis, Anthony; Xiao, Rui; Potocki, Lorraine

Identification of novel candidate disease genes from de novo exonic copy number variants

从新生外显子拷贝数变异中鉴定新的候选致病基因

Gambin, Tomasz; Yuan, Bo; Bi, Weimin; Liu, Pengfei; Rosenfeld, Jill A; Coban-Akdemir, Zeynep; Pursley, Amber N; Nagamani, Sandesh C S; Marom, Ronit; Golla, Sailaja; Dengle, Lauren; Petrie, Heather G; Matalon, Reuben; Emrick, Lisa; Proud, Monica B; Treadwell-Deering, Diane; Chao, Hsiao-Tuan; Koillinen, Hannele; Brown, Chester; Urraca, Nora; Mostafavi, Roya; Bernes, Saunder; Roeder, Elizabeth R; Nugent, Kimberly M; Bader, Patricia I; Bellus, Gary; Cummings, Michael; Northrup, Hope; Ashfaq, Myla; Westman, Rachel; Wildin, Robert; Beck, Anita E; Immken, LaDonna; Elton, Lindsay; Varghese, Shaun; Buchanan, Edward; Faivre, Laurence; Lefebvre, Mathilde; Schaaf, Christian P; Walkiewicz, Magdalena; Yang, Yaping; Kang, Sung-Hae L; Lalani, Seema R; Bacino, Carlos A; Beaudet, Arthur L; Breman, Amy M; Smith, Janice L; Cheung, Sau Wai; Lupski, James R; Patel, Ankita; Shaw, Chad A; Stankiewicz, Paweł

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations

ADCY5相关运动障碍:更广泛的谱系和基因型-表型相关性

Chen, Dong-Hui; Méneret, Aurélie; Friedman, Jennifer R; Korvatska, Olena; Gad, Alona; Bonkowski, Emily S; Stessman, Holly A; Doummar, Diane; Mignot, Cyril; Anheim, Mathieu; Bernes, Saunder; Davis, Marie Y; Damon-Perrière, Nathalie; Degos, Bertrand; Grabli, David; Gras, Domitille; Hisama, Fuki M; Mackenzie, Katherine M; Swanson, Phillip D; Tranchant, Christine; Vidailhet, Marie; Winesett, Steven; Trouillard, Oriane; Amendola, Laura M; Dorschner, Michael O; Weiss, Michael; Eichler, Evan E; Torkamani, Ali; Roze, Emmanuel; Bird, Thomas D; Raskind, Wendy H

Pharmacodynamic analysis of tumour perfusion assessed by 15O-water-PET imaging during treatment with sunitinib malate in patients with advanced malignancies

在接受苹果酸舒尼替尼治疗的晚期恶性肿瘤患者中,通过 15O-水-PET 成像评估肿瘤灌注的药效学分析

Scott, Andrew M; Mitchell, Paul L; O'Keefe, Graeme; Saunder, Timothy; Hicks, Rodney J; Poon, Aurora; Baum, Charles; Brega, Nicoletta; McCarthy, Timothy J; Toner, Guy C