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PubPharm (35)
1
MOLGENIS VIP: an open-source and modular pipeline for high-throughput and integrated DNA variant analysis
enthalten in:
bioRxiv.org
| 2024
von
Maassen, W.
|
Johansson, L.
|
Charbon, B.
| +11
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2
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics
enthalten in:
Scientific reports
| 2024
von
de Boer, E.
|
Vroom, V.
|
Scheper, A.
| +8
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3
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
enthalten in:
bioRxiv.org
| 2023
von
Demidov, G.
|
Yaldiz, B.
|
Garcia-Pelaez, J.
| +19
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4
A unified data infrastructure to support large-scale rare disease research
enthalten in:
bioRxiv.org
| 2023
von
Johansson, L.
|
Laurie, S.
|
Spalding, D.
| +33
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5
Ten quick tips for building FAIR workflows
enthalten in:
PLoS computational biology
| 2023
von
de Visser, C.
|
Johansson, L.
|
Kulkarni, P.
| +8
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6
Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics
enthalten in:
bioRxiv.org
| 2023
von
de Boer, E.
|
Vroom, V.
|
Scheper, A.
| +8
Wird geladen...
7
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients
enthalten in:
International journal of cardiology
| 2021
von
Alimohamed, M.
|
Johansson, L.
|
Posafalvi, A.
| +11
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8
Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC
enthalten in:
Targeted oncology
| 2021
von
Wei, J.
|
Meng, P.
|
Terpstra, M.
| +14
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9
Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC
enthalten in:
Targeted oncology
| 2021
von
Wei, J.
|
Meng, P.
|
Terpstra, M.
| +14
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10
Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next Generation Sequencing in Patients with EGFR-Mutated NSCLC
enthalten in:
Targeted oncology
| 2021
von
Wei, J.
|
Meng, P.
|
Terpstra, M.
| +14
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63231-63-0
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2
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2
exon deletion/duplication
1
11096-26-7
1
Calcium-Binding Proteins
1
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1
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2010-2019
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