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PubPharm (77)
1
Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility
enthalten in:
bioRxiv.org
| 2024
von
Sazonovs, A.
|
Stevens, C.
|
Venkataraman, G.
| +124
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2
Common risk variants in
AHI1
are associated with childhood steroid-sensitive nephrotic syndrome
enthalten in:
bioRxiv.org
| 2024
von
Downie, M.
|
Gupta, S.
|
Voinescu, C.
| +15
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3
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
enthalten in:
Kidney international
| 2024
von
Kmochová, T.
|
Kidd, K.
|
Orr, A.
| +44
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4
Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing
enthalten in:
bioRxiv.org
| 2024
von
Sadeghi-Alavijeh, O.
|
Chan, M.
|
Doctor, G.
| +10
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5
Exploring Multimodal Large Language Models for Radiology Report Error-checking
enthalten in:
arXiv.org
| 2023
von
Wu, J.
|
Kim, Y.
|
Keller, E.
| +7
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6
Self-supervised learning for characterising histomorphological diversity and spatial RNA expression prediction across 23 human tissue types
enthalten in:
bioRxiv.org
| 2023
von
Cisternino, F.
|
Ometto, S.
|
Chatterjee, S.
| +3
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7
Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome
enthalten in:
Kidney international reports
| 2023
von
Downie, M.
|
Gupta, S.
|
Voinescu, C.
| +15
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8
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome
enthalten in:
Pediatric nephrology (Berlin, Germany)
| 2023
von
Downie, M.
|
Gupta, S.
|
Chan, M.
| +13
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9
Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients
enthalten in:
Nature communications
| 2023
von
Wu, Y.
|
Gettler, K.
|
Kars, M.
| +28
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10
A survey on clinical natural language processing in the United Kingdom from 2007 to 2022
enthalten in:
NPJ digital medicine
| 2022
von
Wu, H.
|
Wang, M.
|
Wu, J.
| +20
CommentIn: Expert Rev Pharmacoecon Outcomes Res. 2024 Jan;24(1):5-9. - PMID 37874661
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