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PubPharm (87)
1
Genetic Testing for Supravalvar Aortic Stenosis : What to Do When It Is Not Williams Syndrome
enthalten in:
Journal of the American Heart Association
| 2024
von
Stephens, S.
|
Novy, T.
|
Spurzem, G.
| +6
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2
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome
enthalten in:
Journal of the American Heart Association
| 2024
von
Liu, D.
|
Billington, C.
|
Raja, N.
| +22
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3
Age-related loss of Notch3 underlies brain vascular contractility deficiencies, glymphatic dysfunction, and neurodegeneration in mice
enthalten in:
The Journal of clinical investigation
| 2024
von
Romay, M.
|
Knutsen, R.
|
Ma, F.
| +22
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4
Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes
enthalten in:
Developmental biology
| 2024
von
Pai, C.
|
McIntosh, B.
|
Knutsen, R.
| +4
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5
Evaluating ChatGPT as an Agent for Providing Genetic Education
enthalten in:
bioRxiv.org
| 2023
von
Walton, N.
|
Gracefo, S.
|
Sutherland, N.
| +3
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6
Evaluating ChatGPT as an Agent for Providing Genetic Education
enthalten in:
bioRxiv : the preprint server for biology
| 2023
von
Walton, N.
|
Gracefo, S.
|
Sutherland, N.
| +3
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7
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome
enthalten in:
The British journal of ophthalmology
| 2023
von
Huryn, L.
|
Flaherty, T.
|
Nolen, R.
| +10
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8
A protocol for visualization of murine in situ neurovascular interfaces
enthalten in:
STAR protocols
| 2023
von
Dang, D.
|
Chandrashekhar, V.
|
Chandrashekhar, V.
| +11
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9
Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome at Risk of Sudden Death
enthalten in:
JACC. Clinical electrophysiology
| 2023
von
Levin, M.
|
Cathey, B.
|
Smith, K.
| +4
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10
NIH Toolbox Cognition Battery Feasibility in Individuals With Williams Syndrome
enthalten in:
American journal on intellectual and developmental disabilities
| 2022
von
Condy, E.
|
Becker, L.
|
Farmer, C.
| +4
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Journal of cellular physiology
4
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3
American journal of medical genetics. Part A
3
American journal of physiology. Heart and circu...
3
Matrix biology : journal of the International S...
3
Pediatric cardiology
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American journal of human genetics
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Genetics in medicine : official journal of the ...
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58
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29
Research Support, N.I.H., Extramural
25
Research Support, Non-U.S. Gov't
19
Elastin
19
Research Support, N.I.H., Intramural
18
9007-58-3
13
Williams syndrome
9
elastin
8
Review
6
Tropoelastin
5
Williams-Beuren syndrome
4
genetics
3
Bazett
3
Brain Anomaly
3
Cardiovascular disease
3
Craniofacial Dysmorphism
3
EC 1.6.3.-
3
Environmental exposure
3
Forebrain defect
3
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