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/vufind/Search/Results?lookfor=%22Neil%2C+Jennifer+E%22&type=Person&sort=year
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PubPharm (24)
1
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
bioRxiv.org
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
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2
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
American journal of human genetics
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
UpdateOf: medRxiv. 2023 Oct 05;:. - PMID 37873196
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3
Neurodevelopmental disorders associated variants in
ADAT3
disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration
enthalten in:
bioRxiv.org
| 2024
von
Del-Pozo-Rodriguez, J.
|
Tilly, P.
|
Lecat, R.
| +28
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4
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Del-Pozo-Rodriguez, J.
|
Tilly, P.
|
Lecat, R.
| +28
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5
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations
enthalten in:
bioRxiv.org
| 2023
von
Zhou, Z.
|
Kim, J.
|
Huang, A.
| +18
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6
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations
enthalten in:
bioRxiv : the preprint server for biology
| 2023
von
Zhou, Z.
|
Kim, J.
|
Huang, A.
| +18
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7
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
enthalten in:
medRxiv : the preprint server for health sciences
| 2023
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
UpdateIn: Am J Hum Genet. 2024 Mar 27;:. - PMID 38565148
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8
ARGINASE 1 BINDERS FOR INHIBITING ARGINASE 1 ACTIVITY
enthalten in:
Europäisches Patentamt
| 2023
von
BAILLY MARC ANDRE
|
CHAKRAVARTHY KALYAN
|
FAYAD GHASSAN NAJIB
| +7
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9
ARGINASE 1 BINDERS FOR INHIBITING ARGINASE 1 ACTIVITY
enthalten in:
Europäisches Patentamt
| 2023
von
BAILLY MARC ANDRE
|
CHAKRAVARTHY KALYAN
|
FAYAD GHASSAN NAJIB
| +9
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10
ARGINASE 1 BINDERS FOR INHIBITING ARGINASE 1 ACTIVITY
enthalten in:
Europäisches Patentamt
| 2023
von
BAILLY MARC ANDRE
|
CHAKRAVARTHY KALYAN
|
FAYAD GHASSAN NAJIB
| +8
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ATP1A3
1
ATP1A3 protein, human
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