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/vufind/Search/Results?lookfor=%22Koczkowska%2C+Magdalena%22&type=Person&sort=year
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PubPharm (52)
1
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions : Confirmation of the Predominant Maternal Origin of Type-1 Deletions
enthalten in:
The Journal of molecular diagnostics : JMD
| 2024
von
Pacot, L.
|
Ye, M.
|
Nectoux, J.
| +20
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2
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
enthalten in:
Human genetics
| 2023
von
Koczkowska, M.
|
Chen, Y.
|
Xie, J.
| +4
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3
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
enthalten in:
Human genetics
| 2023
von
Koczkowska, M.
|
Chen, Y.
|
Xie, J.
| +4
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4
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II
enthalten in:
Human genetics
| 2023
von
Koczkowska, M.
|
Chen, Y.
|
Xie, J.
| +4
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5
Size matters : the impact of nucleus size on results from spatial transcriptomics
enthalten in:
Journal of translational medicine
| 2023
von
Mohammadi, E.
|
Chojnowska, K.
|
Bieńkowski, M.
| +13
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6
Size matters: the impact of nucleus size on results from spatial transcriptomics
enthalten in:
Journal of translational medicine
| 2023
von
Mohammadi, E.
|
Chojnowska, K.
|
Bieńkowski, M.
| +13
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7
Size matters: the impact of nucleus size on results from spatial transcriptomics
enthalten in:
Journal of translational medicine
| 2023
von
Mohammadi, E.
|
Chojnowska, K.
|
Bieńkowski, M.
| +13
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8
Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer
enthalten in:
Experimental and molecular pathology
| 2023
von
Jasiak, A.
|
Koczkowska, M.
|
Stukan, M.
| +8
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9
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
enthalten in:
Scientific reports
| 2022
von
Koczkowska, M.
|
Jąkalski, M.
|
Birkholz-Walerzak, D.
| +19
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10
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing
enthalten in:
NPJ breast cancer
| 2022
von
Kostecka, A.
|
Nowikiewicz, T.
|
Olszewski, P.
| +20
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7
Journal of applied genetics
6
BMC nephrology
4
Human mutation
4
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2
Genetics in medicine : official journal of the ...
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Thema
31
Journal Article
17
Research Support, Non-U.S. Gov't
5
Case Reports
4
ovarian cancer
3
Cerebral cortex
3
Consecutive tissue sections
3
Data integration
3
Distal chromosome 6p duplication
3
Focal segmental glomerulosclerosis
3
Glomerulopathy
3
NF1
3
Neurofibromin 1
3
Neuronal nuclei
3
Spatial transcriptomics
3
next-generation sequencing
2
17q21.31 microdeletion syndrome
2
18q deletion syndrome
2
22q11.2 deletion syndrome
2
Array comparative genomic hybridization
2
Array-based comparative genomic hybridization (...
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Erscheinungszeitraum
16
2020-
36
2010-2019
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