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Franck Rapaport

rockefeller university
H指数:41
被引数:9,380

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Inherited human RelB deficiency impairs innate and adaptive immunity to infection

遗传性人类RelB缺乏症会损害对感染的先天和适应性免疫

2024-09-040
OAAI
Helper T cell immunity in humans with inherited CD4 deficiency
2024-04-013
OAAI
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
2022-12-1413
OAAI
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency
2021-09-0230
OAAI
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents
2021-09-0118
OA
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance

人类STAT3变异通过负显性成为常染色体显性高IgE综合征的基础

2021-06-1730
OAAI
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

对先天性错误的人类基因的负选择取决于疾病的结果以及遗传的方式和机制

2021-01-0641
OA
Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes

预测的功能丧失变体的常见纯合性揭示了可分配的人类基因的冗余和有利影响

2020-06-0224
OAAI
Inherited human IFN-γ deficiency underlies mycobacterial disease

遗传性人ifn-γ 缺乏是分枝杆菌病的基础

2020-05-1187
OA
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science
IF45.8
2020-01-010
OAAI
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

人类SNORA31变异会损害皮质神经元对HSV-1的固有免疫力,并导致单纯疱疹病毒性脑炎

2019-12-0590
OAAI
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β
2019-11-0139
OAAI
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis
2019-09-0489
OAAI
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
2018-12-2743
OAAI
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23
2018-12-14350
OAAI
JAK2/IDH-mutant-driven myeloproliferative neoplasm is sensitive to combined targeted inhibition (vol 128, pg 789 2018)
2018-09-176
OA