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J. Mazereeuw-Hautier

centre national de la recherche scientifique (cnrs)
H指数:40
被引数:8,381

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A standardized approach to test missense PNPLA1 rare genetic variants of uncertain significance in epidermal differentiation disorders

一种标准化方法用于检测表皮分化障碍中意义不明的罕见错义PNPLA1基因变异

2026-01-010
OA
An innovative, highly conformable, mesh-free healing matrix dressing: results of a clinical trial

一种创新的,高度适形的,无网眼的愈合基质敷料: 临床试验的结果

2025-11-010
PRE
Evaluation of antenatal prebiotic intake in infants at risk of atopy: the double-blind PREGRALL randomized clinical trial

对有特应性倾向婴儿产前益生元摄入的评估:双盲PREGRALL随机临床试验

2025-11-010
PRE
A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders

一种基于发病机制指导的遗传性表皮分化障碍的新分类方案

2025-08-015
PRE
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy

综合征性表皮分化障碍:基于病生理机制的新分类与治疗方向

2025-08-019
OAAI
Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy

掌跖表皮分化障碍:一种新的基于发病机制的分类向疗法

2025-08-0115
OA
Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy

非综合征性表皮分化障碍:基于与疾病相关基因的新分类和命名法,以实现靶向治疗

2025-08-015
OAAI
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas (vol 23, pg 1226, 2017)

ACTRT1及其增强子RNA元件的突变导致遗传性和散发性基底细胞癌中Hedgehog信号通路的异常激活(卷23,页1226,2017)。

2025-02-060
PRE
Long-term effects of sirolimus treatment for slow-flow vascular malformations: Real-world evidence from the French observational multicentre SIROLO study
2024-11-250
PRE
Effectiveness of a nurse-led one-to-one education programme in addition to standard care in children with atopic dermatitis: a multicentre randomized control trial
2024-06-120
PRE
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome
2024-04-161
PRE