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PubPharm (285)
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
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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5
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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6
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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7
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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8
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population
enthalten in:
Human molecular genetics
| 2024
von
Cannon, S.
|
Hall, T.
|
Hawkes, G.
| +7
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9
Hyperglycaemia is a causal risk factor for upper limb pathologies
enthalten in:
International journal of epidemiology
| 2024
von
Green, H.
|
Burden, E.
|
Chen, J.
| +12
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10
Application of the model-informed drug development paradigm to datopotamab deruxtecan dose selection for late-stage development
enthalten in:
CPT: pharmacometrics & systems pharmacology
| 2024
von
Lu, Y.
|
Liang, S.
|
Hong, Y.
| +9
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285
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Diabetologia
17
bioRxiv.org
13
Cancer chemotherapy and pharmacology
13
Diabetes
12
Cureus
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Antimicrobial agents and chemotherapy
6
Diabetes care
5
British journal of clinical pharmacology
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The American journal of managed care
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Journal of clinical immunology
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Journal of neuro-oncology
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Nature genetics
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The Journal of clinical endocrinology and metab...
3
American journal of hematology
3
Blood
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Current pharmaceutical biotechnology
3
Graefe's archive for clinical and experimental ...
3
International journal of antimicrobial agents
3
Journal of atmospheric chemistry
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75
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23
Research Support, N.I.H., Extramural
20
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Type 1 diabetes
16
Neonatal diabetes
16
Review
14
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13
PR-104
12
MODY
10
570
10
Biology
10
Insulin
8
Genetic risk score
8
Maturity onset diabetes of the young
8
Type 2 diabetes
7
Antineoplastic Agents
7
Blood Glucose
7
Comparative Study
7
HLA
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Erscheinungszeitraum
144
2020-
123
2010-2019
16
2000-2009
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