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J

James J. Dowling

University of Toronto
H指数:65
被引数:1.4万

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Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

RNA测序在罕见疾病队列中的临床应用和分子洞察

2026-03-240
OAAI
AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy

AAV8基因治疗与饮食性损伤共同诱发X连锁肌管性肌营养不良小鼠模型的胆汁淤积性肝病

2026-02-180
PRE
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

DENND2B基因的变异与神经发育障碍、精神病和紧张症的易感性相关。Brain

Brain
IF11.7
2026-01-011
PRE
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study

筛查罕见遗传诊断以评估其是否适合定制反义寡核苷酸疗法的开发:一项回顾性队列研究

2025-10-110
PRE
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel

先天性肌病基因的临床有效性由ClinGen先天性肌病专家小组确定

2025-06-100
PRE
Integrin α5β1 represents a novel therapeutic target to improve vascular remodeling in pulmonary arterial hypertension

整合素α5β1是改善肺动脉高压血管重塑的一个新型治疗靶点。

2024-11-121
PRE
Integrin α5β1 contributes to pathological remodeling of the right ventricle in pulmonary arterial hypertension

整合素α5β1参与肺动脉高压中右心室病理性重塑。

2024-11-120
PRE
Treatment of pulmonary arterial hypertension by blocking integrin a5b1, a potential disease-modifying strategy

通过阻断整合素α5β1治疗肺动脉高压,一种潜在的改变疾病进程的策略

2024-11-120
PRE
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
2024-11-110
OAAI
Implication of Integrin α5β1 in right ventricular failure associated with pulmonary arterial hypertension
2024-10-300
PRE
Identification of integrin a5b1 inhibition as a potentially disease-modifying approach for the treatment of pulmonary arterial hypertension
2024-10-300
PRE
The Discovery of MORF-627, a Highly Selective Conformationally-Biased Zwitterionic Integrin αvβ6 Inhibitor for Fibrosis
2024-10-240
PRE
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

针对50型遗传性痉挛性截瘫的AAV基因治疗:单例患者I期临床试验

2024-06-283
OA