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

Effectiveness of an image analyzing AI-based Digital Health Technology to identify Non-Melanoma Skin Cancer and other skin lesions: results of the DERM-003 study

基于图像分析人工智能的数字健康技术在识别非黑色素瘤皮肤癌和其他皮肤病变方面的有效性:DERM-003 研究结果

Marsden, Helen; Morgan, Caroline; Austin, Stephanie; DeGiovanni, Claudia; Venzi, Marcello; Kemos, Polychronis; Greenhalgh, Jack; Mullarkey, Dan; Palamaras, Ioulios

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

除了预测诊断之外:测量生物素酶活性在肝糖原贮积症中是否发挥作用?

El-Gharbawy, Areeg; Tolun, Adviye A; Halaby, Carine A; Austin, Stephanie L; Kishnani, Priya S; Bali, Deeksha S

Targeted long-read sequencing identifies missing disease-causing variation

靶向长读长测序可识别缺失的致病变异

Miller, Danny E; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M; Lewis, Alexandra P; Fuerte, Edith P Almanza; Paschal, Catherine R; Walsh, Tom; Thies, Jenny; Bennett, James T; Glass, Ian; Dipple, Katrina M; Patterson, Karynne; Bonkowski, Emily S; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J; Chow, Penny; Hing, Anne V; Wenger, Tara L; Adam, Margaret P; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K; Reddy, Timothy E; Majoros, William H; Allen, Andrew S; Crawford, Gregory E; Kishnani, Priya S; King, Mary-Claire; Cherry, Tim; Chong, Jessica X; Bamshad, Michael J; Nickerson, Deborah A; Mefford, Heather C; Doherty, Dan; Eichler, Evan E

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature

糖原贮积症IIIa型患儿的物理治疗评估和全身磁共振成像结果:一项临床研究和文献综述

Paschall, Anna; Khan, Aleena A; Enam, Syed Faaiz; Boggs, Tracy; Hijazi, Ghada; Bowling, Michael; Austin, Stephanie; Case, Laura E; Kishnani, Priya

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

一项回顾性纵向研究和对III型糖原贮积症成年患者的全面回顾

Hijazi, Ghada; Paschall, Anna; Young, Sarah P; Smith, Brian; Case, Laura E; Boggs, Tracy; Amarasekara, Sathya; Austin, Stephanie L; Pendyal, Surekha; El-Gharbawy, Areeg; Deak, Kristen L; Muir, Andrew J; Kishnani, Priya S

Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease

庞贝病患儿的定量全身磁共振成像:评估肌肉疾病严重程度的临床工具

Fernandes, Samuela A; Khan, Aleena A; Boggs, Tracy; Bowling, Michael; Austin, Stephanie; Stefanescu, Mihaela; Case, Laura; Kishnani, Priya S

Diurnal variability of glucose tetrasaccharide (Glc(4)) excretion in patients with glycogen storage disease type III

III型糖原贮积症患者葡萄糖四糖(Glc(4))排泄的昼夜变化

Young, Sarah P; Khan, Aleena; Stefanescu, Ela; Seifts, Andrea M; Hijazi, Ghada; Austin, Stephanie; Kishnani, Priya S

"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports

糖原贮积症I型患者肝细胞腺瘤的“靶心”样表现——非典型磁共振成像表现:两例病例报告

Vernuccio, Federica; Austin, Stephanie; Meyer, Mathias; Guy, Cynthia D; Kishnani, Priya S; Marin, Daniele

Novel approaches to quantify CNS involvement in children with Pompe disease

量化庞贝病患儿中枢神经系统受累情况的新方法

Korlimarla, Aditi; Spiridigliozzi, Gail A; Crisp, Kelly; Herbert, Mrudu; Chen, Steven; Malinzak, Michael; Stefanescu, Mihaela; Austin, Stephanie L; Cope, Heidi; Zimmerman, Kanecia; Jones, Harrison; Provenzale, James M; Kishnani, Priya S

Pregnancy Outcomes in Late Onset Pompe Disease

晚发型庞贝病患者的妊娠结局

Goker-Alpan, Ozlem; Kasturi, Vellore G; Sohi, Maninder K; Limgala, Renuka P; Austin, Stephanie L; Jennelle, Tabitha; Banikazemi, Maryam; Kishnani, Priya S