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/vufind/Search/Results?lookfor=%22Taylor%2C+Julie+P%22&type=Person&sort=year
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PubPharm (30)
1
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
enthalten in:
American journal of human genetics
| 2024
von
Shepherdson, J.
|
Hutchison, K.
|
Don, D.
| +54
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2
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
enthalten in:
Annals of neurology
| 2023
von
McCormick, E.
|
Keller, K.
|
Taylor, J.
| +45
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3
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease : Experience from over 1,000 cases
enthalten in:
Cell genomics
| 2023
von
Clause, A.
|
Taylor, J.
|
Rajkumar, R.
| +24
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4
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships
enthalten in:
Human mutation
| 2022
von
Taylor, J.
|
Malhotra, A.
|
Burns, N.
| +10
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5
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships
enthalten in:
Human mutation
| 2022
von
Taylor, J.
|
Malhotra, A.
|
Burns, N.
| +10
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6
Heterodimerization of Lrrk1-Lrrk2 : Implications for LRRK2-associated Parkinson disease
enthalten in:
Mechanisms of ageing and development
| 2010
von
Dachsel, J.
|
Nishioka, K.
|
Vilariño-Güell, C.
| +12
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7
Dominant-negative Dmp53 extends life span through the dTOR pathway in D. melanogaster
enthalten in:
Mechanisms of ageing and development
| 2010
von
Dachsel, J.
|
Nishioka, K.
|
Vilariño-Güell, C.
| +12
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8
Identification of potential protein interactors of Lrrk2
enthalten in:
Parkinsonism & related disorders
| 2007
von
Dächsel, J.
|
Taylor, J.
|
Mok, S.
| +8
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9
Leucine-rich repeat kinase 1 : a paralog of LRRK2 and a candidate gene for Parkinson's disease
enthalten in:
Neurogenetics
| 2007
von
Taylor, J.
|
Hulihan, M.
|
Kachergus, J.
| +11
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10
Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson’s disease
enthalten in:
Neurogenetics
| 2007
von
Taylor, J.
|
Hulihan, M.
|
Kachergus, J.
| +11
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11
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10
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9
EC 2.7.11.1
9
LRRK2 protein, human
9
Leucine-Rich Repeat Serine-Threonine Protein Ki...
9
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3
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2
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2
gene discovery
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gene-disease relationship
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rare disease
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