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PubPharm (2.118)
1
Spinocerebellar ataxia 27B : A novel, frequent and potentially treatable ataxia
enthalten in:
Clinical and translational medicine
| 2024
von
Pellerin, D.
|
Danzi, M.
|
Renaud, M.
| +4
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2
Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring
enthalten in:
Child: care, health and development
| 2024
von
Klitzman, R.
|
Bezborodko, E.
|
Chung, W.
| +1
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3
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort
enthalten in:
Brain : a journal of neurology
| 2024
von
Polavarapu, K.
|
Sunitha, B.
|
Töpf, A.
| +23
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4
Innovations in conditioning and post-transplant maintenance in AML : genomically informed revelations on the graft-versus-leukemia effect
enthalten in:
Frontiers in immunology
| 2024
von
Murdock, H.
|
Ho, V.
|
Garcia, J.
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5
Pleiotropic influence of DNA methylation QTLs on physiological and ageing traits
enthalten in:
Epigenetics
| 2023
von
Mozhui, K.
|
Kim, H.
|
Villani, F.
| +3
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6
Systematic identification and characterization of genes in the regulation and biogenesis of photosynthetic machinery
enthalten in:
Cell
| 2023
von
Kafri, M.
|
Patena, W.
|
Martin, L.
| +14
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7
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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8
Delineating clinical and developmental outcomes in STXBP1-related disorders
enthalten in:
Brain : a journal of neurology
| 2023
von
Xian, J.
|
Thalwitzer, K.
|
McKee, J.
| +16
UpdateOf: medRxiv. 2023 May 11;:. - PMID 37215006
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9
Induced Pluripotent Stem Cells in Disease Biology and the Evidence for Their In Vitro Utility
enthalten in:
Annual review of genetics
| 2023
von
Adegunsoye, A.
|
Gonzales, N.
|
Gilad, Y.
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10
Genetic and environmental influence on resting state networks in young male and female adults : a cartographer mapping study
enthalten in:
Human brain mapping
| 2023
von
Kulkarni, A.
|
Hwang, G.
|
Cook, C.
| +6
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Thema: genetics
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Thema: Research Support, N.I.H., Extramural
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2.118
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458
eLife
54
Circulation. Genomic and precision medicine
51
Circulation. Cardiovascular genetics
46
Circulation
41
Proceedings of the National Academy of Sciences...
40
Circulation research
35
American journal of medical genetics. Part B, N...
34
Journal of the American Heart Association
33
Stroke
29
Brain : a journal of neurology
25
Arteriosclerosis, thrombosis, and vascular biology
25
Genes
23
Genes, brain, and behavior
23
Journal of medical genetics
21
Journal of child psychology and psychiatry, and...
20
Frontiers in immunology
19
American journal of respiratory and critical ca...
19
Journal of lipid research
19
Journal of the American College of Cardiology
19
Movement disorders : official journal of the Mo...
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Research Support, N.I.H., Extramural
genetics
2.046
Journal Article
1.393
Research Support, Non-U.S. Gov't
530
genomics
318
Review
241
Research Support, U.S. Gov't, Non-P.H.S.
157
human
109
mouse
90
gene expression
86
epidemiology
85
Transcription Factors
72
D. melanogaster
70
Multicenter Study
70
evolutionary biology
65
Biomarkers
61
Meta-Analysis
59
chromosomes
57
neuroscience
55
Research Support, N.I.H., Intramural
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2020-
1.027
2010-2019
7
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