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PubPharm (25)
1
High-resolution detection of copy number alterations in single cells with HiScanner
enthalten in:
bioRxiv.org
| 2024
von
Zhao, Y.
|
Luquette, L.
|
Veit, A.
| +8
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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:
bioRxiv.org
| 2024
von
Lemire, G.
|
Sanchis-Juan, A.
|
Russell, K.
| +61
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3
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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4
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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5
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
enthalten in:
JAMA neurology
| 2023
von
Akula, S.
|
Chen, A.
|
Neil, J.
| +129
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6
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay
enthalten in:
Clinical genetics
| 2023
von
Mo, A.
|
Paz-Ebstein, E.
|
Yanovsky-Dagan, S.
| +7
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7
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
enthalten in:
JAMA network open
| 2023
von
Koh, H.
|
Smith, L.
|
Wiltrout, K.
| +61
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8
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
enthalten in:
Developmental cell
| 2022
von
Qian, X.
|
DeGennaro, E.
|
Talukdar, M.
| +32
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9
Biallelic loss of EMC10 leads to mild to severe intellectual disability
enthalten in:
Annals of clinical and translational neurology
| 2022
von
Kaiyrzhanov, R.
|
Rocca, C.
|
Suri, M.
| +22
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10
Biallelic loss of EMC10 leads to mild to severe intellectual disability
enthalten in:
Annals of Clinical and Translational Neurology
| 2022
von
Kaiyrzhanov, R.
|
Rocca, C.
|
Suri, M.
| +22
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2020-
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2010-2019
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