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K

Klaus Schwarz

University of Ulm
H指数:81
被引数:2.3万

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A non-coding mutation within the NOTCH1 gene initiates oncogenic NOTCH signaling via wild type NICD stabilization in CLL

NOTCH1基因内的非编码突变通过野生型NICD的稳定化在CLL中启动癌基因NOTCH信号通路

Blood
IF23.1
2025-07-120
OAAI
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

非偏斜的X失活导致患有色素失禁的女性的nf-κb必需调节剂 (NEMO) Δ-外显子5-自身炎症综合征 (nemo-ndas)

2024-09-120
OAAI
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
2024-02-014
PRE
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing
2024-01-010
PRE
Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome

结合种系和体细胞人FADD突变导致自身免疫性淋巴增生综合征

2024-01-017
PRE
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations

重新审视由Fas配体突变引起的自身免疫性淋巴组织增生综合征

2023-05-019
PRE
Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS

OTULIN中的复合杂合变体与暴发性非典型迟发性ORAS相关

2022-02-1618
OAAI
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies

DNA损伤反应的生物标志物使基于流式细胞术的诊断能够识别原发性免疫缺陷中先天性DNA修复缺陷

2021-10-306
OAAI
A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS

CD4,CD8和双阴性T细胞的独特CD38 CD45RA群体受FAS控制

2020-11-1033
OAAI