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PubPharm (48)
1
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
enthalten in:
bioRxiv.org
| 2024
von
Chen, Z.
|
Tucci, A.
|
Cipriani, V.
| +17
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2
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in
AFF3
as a significant cause of intellectual disability
enthalten in:
bioRxiv.org
| 2023
von
Jadhav, B.
|
Garg, P.
|
van Vugt, J.
| +18
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3
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
Jadhav, B.
|
Garg, P.
|
van Vugt, J.
| +20
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4
POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS
enthalten in:
bioRxiv.org
| 2023
von
Ibañez, K.
|
Jadhav, B.
|
Facchini, S.
| +16
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5
POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
Ibañez, K.
|
Jadhav, B.
|
Facchini, S.
| +18
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6
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
enthalten in:
Brain : a journal of neurology
| 2023
von
Chen, Z.
|
Tucci, A.
|
Cipriani, V.
| +75
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7
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
enthalten in:
Brain : a journal of neurology
| 2023
von
Zanovello, M.
|
Ibáñez, K.
|
Brown, A.
| +117
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8
Population Frequency of Repeat Expansions Indicates Increased Disease Prevalence Estimates Across Different Populations
enthalten in:
ResearchSquare.com
| 2023
von
Tucci, A.
|
Ibáñez, K.
|
Jadhav, B.
| +18
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9
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population
enthalten in:
Brain communications
| 2023
von
Lam, T.
|
Rocca, C.
|
Ibanez, K.
| +71
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10
Whole genome sequencing for diagnosis of neurological repeat expansion disorders
enthalten in:
bioRxiv.org
| 2022
von
Ibanez, K.
|
Polke, J.
|
Hagelstrom, T.
| +77
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48
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Zeitschriftentitel
8
bioRxiv.org
3
Brain : a journal of neurology
3
Data mining and knowledge discovery
3
Genome medicine
2
Genetics in medicine : official journal of the ...
2
Molecular autism
2
Proteins
2
Scientific reports
2
medRxiv : the preprint server for health sciences
1
Annals of Clinical and Translational Neurology
1
Annals of clinical and translational neurology
1
BMJ (Clinical research ed.)
1
Bioinformatics (Oxford, England)
1
Brain communications
1
Clinical Genetics
1
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1
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1
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1
Journal of clinical oncology : official journal...
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Thema
26
Journal Article
26
Research Support, Non-U.S. Gov't
5
570
5
Biology
5
Cancer
5
Gene expression
4
Research Support, N.I.H., Extramural
4
whole-genome sequencing
3
Inverse comorbidity
3
Meta-Analysis
3
Neurological disorders
3
Protein interaction networks
3
Repeat expansions
3
Short tandem repeats
3
Short-read sequencing data
3
Simulated annealing
3
Systems biology
3
Visualization
2
139135-51-6
2
ASD
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Erscheinungszeitraum
30
2020-
18
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
45
Englisch
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