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F

Ferrán Casals

Faculty of Biology
H指数:31
被引数:6,579

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Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement

CD137缺陷中的体细胞返祖现象与EB病毒控制及临床改善相关联

2025-11-280
OAAI
Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism

关于携带NLRP3嵌合体的患者的临床特征、遗传谱系及克隆演化的新见解

2025-09-300
OA
Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome (Jun, 10.1007/s10875-022-01298-2, 2022)
2022-07-080
OAAI
Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome

导致抗Caspase-8裂解的RIPK1-Induced自身炎症综合征的新型致病变异的表征

2022-06-1811
OAAI
Second GHEP-ISFG exercise for DVI: DNA-led victims' identification in a simulated air crash
2021-07-016
PRE
The first GHEP-ISFG collaborative exercise on forensic applications of massively parallel sequencing
2020-11-017
PREAI
Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

由于新的高形态PLCG2突变引起的严重自身炎症表现和抗体缺乏

2020-07-1537
OAAI
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
2019-01-0157
OAAI