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PubPharm (18)
1
SLC6A1 variant pathogenicity, molecular function and phenotype : a genetic and clinical analysis
enthalten in:
Brain : a journal of neurology
| 2023
von
Stefanski, A.
|
Pérez-Palma, E.
|
Brünger, T.
| +43
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2
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
enthalten in:
Brain : a journal of neurology
| 2023
von
Brünger, T.
|
Pérez-Palma, E.
|
Montanucci, L.
| +10
CommentIn: Epilepsy Curr. 2023 Jan 18;23(2):118-120. - PMID 37122415
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3
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
enthalten in:
Brain : a journal of neurology
| 2022
von
Johannesen, K.
|
Liu, Y.
|
Koko, M.
| +98
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4
Multitrait genetic association analysis identifies 50 new risk loci for gastro-oesophageal reflux, seven new loci for Barrett's oesophagus and provides insights into clinical heterogeneity in reflux diagnosis
enthalten in:
Gut
| 2022
von
Ong, J.
|
An, J.
|
Han, X.
| +83
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5
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss
enthalten in:
American journal of human genetics
| 2022
von
Trpchevska, N.
|
Freidin, M.
|
Broer, L.
| +68
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6
Prognostic Value of a Polygenic Risk Score for Coronary Heart Disease in Individuals Aged 70 Years and Older
enthalten in:
Circulation. Genomic and precision medicine
| 2022
von
Neumann, J.
|
Riaz, M.
|
Bakshi, A.
| +10
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7
ENIGMA-anxiety working group : Rationale for and organization of large-scale neuroimaging studies of anxiety disorders
enthalten in:
Human brain mapping
| 2022
von
Bas-Hoogendam, J.
|
Groenewold, N.
|
Aghajani, M.
| +113
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8
Epigenetic scores for the circulating proteome as tools for disease prediction
enthalten in:
eLife
| 2022
von
Gadd, D.
|
Hillary, R.
|
McCartney, D.
| +25
CommentIn: Elife. 2022 Feb 25;11:. - PMID 35212264
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9
Preformed chromatin topology assists transcriptional robustness of Shh during limb development
enthalten in:
Proceedings of the National Academy of Sciences of the United States of America
| 2019
von
Paliou, C.
|
Guckelberger, P.
|
Schöpflin, R.
| +15
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10
Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer's disease
enthalten in:
Brain : a journal of neurology
| 2019
von
Vöglein, J.
|
Paumier, K.
|
Jucker, M.
| +34
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1
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Thema: genetics
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Thema: Research Support, N.I.H., Extramural
Medienart
18
Aufsätze
18
E-Artikel
18
E-Ressourcen
Zeitschriftentitel
5
Brain : a journal of neurology
2
Proceedings of the National Academy of Sciences...
2
eLife
1
American journal of human genetics
1
American journal of respiratory and critical ca...
1
Cell
1
Circulation. Genomic and precision medicine
1
Gut
1
Human brain mapping
1
Journal of the American College of Cardiology
1
Movement disorders : official journal of the Mo...
1
The Journal of neuroscience : the official jour...
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Thema
18
Journal Article
Research Support, N.I.H., Extramural
18
Research Support, Non-U.S. Gov't
genetics
4
epilepsy
3
Multicenter Study
2
Alzheimer’s disease
2
Membrane Proteins
2
amyloid-β
2
ion channel
2
neurodevelopmental disorder
1
133483-10-0
1
3D genome
1
452VLY9402
1
7171WSG8A2
1
AE28F7PNPL
1
APOL1 protein, human
1
ARHL
1
African-American
1
Apolipoprotein L1
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Erscheinungszeitraum
8
2020-
10
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
18
Englisch
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