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1 . Academic Journal
Adipose-derived mesenchymal stromal cells in clinical trials: Insights from single-cell studies
저자
by
Kostecka, Anna
;
Kalamon, Natalia
;
Skoniecka, Aneta
;
Koczkowska, Magdalena
;
Skowron, Piotr M.
, et al.
소스
In
Life Sciences
15 August 2024 351
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7 . Academic Journal
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions
저자
by
Castellanos, Elisabeth
;
Blok, Marinus J.
;
Brems, Hilde
;
Koczkowska, Magdalena
;
Pasmant, Eric
, et al.
소스
In
The Journal of Molecular Diagnostics
February 2024 26(2):150-157
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7 . Academic Journal
Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer
저자
by
Jasiak, Anna
;
Koczkowska, Magdalena
;
Stukan, Maciej
;
Wydra, Dariusz
;
Biernat, Wojciech
, et al.
소스
In
Experimental and Molecular Pathology
April 2023 130
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7 . Academic Journal
Genotype–Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a].
저자
by
Chen, Yunjia
;
Fu, Yulong
;
Koczkowska, Magdalena
;
Callens, Tom
;
Gomes, Alicia
, et al.
소스
Cancers
. Jul2024, Vol. 16 Issue 13, p2406. 16p.
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7 . Academic Journal
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
저자
by
Koczkowska, Magdalena
;
Chen, Yunjia
;
Xie, Jing
;
Callens, Tom
;
Gomes, Alicia
, et al.
소스
Human Genetics
. Jul2023, Vol. 142 Issue 7, p849-861. 13p.
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7 . Academic Journal
Size matters: the impact of nucleus size on results from spatial transcriptomics.
저자
by
Mohammadi, Elyas
;
Chojnowska, Katarzyna
;
Bieńkowski, Michał
;
Kostecka, Anna
;
Koczkowska, Magdalena
, et al.
소스
Journal of Translational Medicine
. 4/21/2023, Vol. 21 Issue 1, p1-10. 10p.
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7 . Academic Journal
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype.
저자
by
Koczkowska, Magdalena
;
Jąkalski, Marcin
;
Birkholz-Walerzak, Dorota
;
Kostecka, Anna
;
Iliszko, Mariola
, et al.
소스
Scientific Reports
. 12/2/2022, Vol. 12 Issue 1, p1-7. 7p.
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7 . Academic Journal
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
저자
by
Kostecka, Anna
;
Nowikiewicz, Tomasz
;
Olszewski, Paweł
;
Koczkowska, Magdalena
;
Horbacz, Monika
, et al.
소스
NPJ Breast Cancer; 6/29/2022, Vol. 8 Issue 1, p1-10, 10p
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7 . Academic Journal
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience.
저자
by
Piotrowski, Arkadiusz
;
Koczkowska, Magdalena
;
Poplawski, Andrzej B.
;
Bartoszewski, Rafał
;
Króliczewski, Jarosław
, et al.
소스
Human Mutation; Jan2022, Vol. 43 Issue 1, p74-84, 11p
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7 . Academic Journal
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1.
저자
by
Koczkowska, Magdalena
;
Callens, Tom
;
Chen, Yunjia
;
Gomes, Alicia
;
Hicks, Alesha D.
, et al.
소스
Human Mutation; Jan2020, Vol. 41 Issue 1, p299-315, 17p
Web of Science
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