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PubPharm (308)
1
The penetrance of age-related monogenic disease depends on ascertainment context
enthalten in:
bioRxiv.org
| 2024
von
Mirshahi, U.
|
Colclough, K.
|
Wright, C.
| +12
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2
A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling
HK1
enthalten in:
bioRxiv.org
| 2024
von
Wakeling, M.
|
Owens, N.
|
Hopkinson, J.
| +20
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3
Framework for prioritizing variants of unknown significance from clinical genetic testing in kidney disease – utility of multidisciplinary approach to gather evidence of pathogenicity for Hepatocyte Nuclear Factor-1β (
HNF1B
) p.Arg303His
enthalten in:
bioRxiv.org
| 2024
von
Mirshahi, U.
|
Bhan, A.
|
Tholen, L.
| +12
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4
Effective interventions in preventing gestational diabetes mellitus : A systematic review and meta-analysis
enthalten in:
Communications medicine
| 2024
von
Takele, W.
|
Vesco, K.
|
Josefson, J.
| +118
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5
Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young
enthalten in:
bioRxiv.org
| 2024
von
Cardoso, P.
|
McDonald, T.
|
Patel, K.
| +4
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6
Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes : a systematic review
enthalten in:
Communications medicine
| 2024
von
Felton, J.
|
Redondo, M.
|
Oram, R.
| +120
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7
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling
enthalten in:
bioRxiv.org
| 2024
von
Kentistou, K.
|
Lim, B.
|
Kaisinger, L.
| +19
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8
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Kentistou, K.
|
Lim, B.
|
Kaisinger, L.
| +19
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9
Author Correction : Genotype-stratified treatment for monogenic insulin resistance: a systematic review
enthalten in:
Communications medicine
| 2024
von
Semple, R.
|
Patel, K.
|
Auh, S.
| +102
ErratumFor: Commun Med (Lond). 2023 Oct 5;3(1):134. - PMID 37794082
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10
Galectin-4 antimicrobial activity primarily occurs through its C-terminal domain
enthalten in:
Molecular & cellular proteomics : MCP
| 2024
von
Jan, H.
|
Wu, S.
|
Stowell, C.
| +18
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Diabetologia
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bioRxiv.org
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British journal of clinical pharmacology
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