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Ulrich Pannicke

pediatrics
H指数:36
被引数:7,466

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Posttransplant B cell Development and Function in Patients with B cell Positive SCID Caused by Pathogenic Variants in IL2RG and JAK3

移植后B细胞发育和功能:IL2RG和JAK3致病性变异所致B细胞阳性SCID患者

2026-03-210
OAAI
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
A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation
2023-11-145
OAAI
Transcriptional reprogramming by mutated IRF4 in lymphoma

淋巴瘤中突变IRF4的转录重编程

2023-11-071
OAAI
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency
2023-01-1313
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
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells (vol 11, 1031, 2020)
2020-04-200
OAAI
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
2020-02-2521
OAAI
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

由ARPC1B缺陷引起的联合免疫缺陷与严重感染,炎症和过敏

2019-06-0180
OAAI
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

人类RIPK1缺陷导致联合免疫缺陷和炎症性肠病

2018-12-27138
OAAI
Clinical and Molecular Heterogeneity of RTE L1 Deficiency (vol 8, pg 449, 2017)

RTE L1缺乏症的临床和分子异质性 (第8卷,449页,2017)

2017-10-020
OAAI
Clinical and Molecular Heterogeneity of RTEL1 Deficiency

RTEL1缺乏症的临床和分子异质性

2017-05-0141
OAAI
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

DCLRE1C (ARTEMIS) 突变导致的表型从非典型的严重联合免疫缺陷到单纯的抗体缺陷

2015-10-1673
OAAI