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Uffe Birk Jensen

University of Pennsylvania
H指数:55
被引数:1.1万

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荣誉奖项

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Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia

SOX3位点上的位置效应由染色体间插入引起遗传性痉挛性截瘫

2026-07-240
PRE
Male with an apparently normal phenotype carrying a BRCA1 exon 20 duplication in trans to a BRCA1 frameshift variant
2024-01-090
OAAI
Enhanced production of mesencephalic dopaminergic neurons from lineage-restricted human undifferentiated stem cells
2023-12-053
OAAI
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

临床,剪接和功能分析以分类BRCA2外显子3变体: 基于点的ACMG/AMP方法的应用

2022-10-236
OAAI
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

基于313变异的多基因风险评分对具有杂合BRCA1或BRCA2致病变异的欧洲血统女性对侧乳腺癌风险预测的预测能力

2021-09-0120
OAAI
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

BRCA1和BRCA2基因组域与前列腺癌风险和侵袭性的关系

2020-02-0336
OAAI
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

鉴定与雌激素受体阴性乳腺癌风险相关的十种变异

2017-10-23270
OAAI
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) 中间风险变体: ENIGMA联盟的乳腺癌和卵巢癌风险评估和临床管理建议

2017-05-1048
OAAI