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Koppolu, Agnieszka
31
results:
Search for persons
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Format
Online (31)
Mediatypes
Articles (Online) (12)
OpenAccess-fulltext (19)
Sorted by: Relevance
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1
Postzygotic mosaicism of a novel PTPN11 mutation in monozyg..:
Rydzanicz, Małgorzata
;
Glinkowski, Wojciech
;
Walczak, Anna
...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1482-1487 , 2022
Link:
https://doi.org/10.1002/..
?
2
Higher Mutation Burden in High Proliferation Compartments o..:
Grzywa, Tomasz M.
;
Koppolu, Agnieszka A.
;
Paskal, Wiktor
...
International Journal of Molecular Sciences. 22 (2021) 8 - p. 3886 , 2021
Link:
https://doi.org/10.3390/..
?
3
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes S..:
Szczałuba, Krzysztof
;
Rydzanicz, Małgorzata
;
Walczak, Anna
...
Diagnostics. 11 (2021) 7 - p. 1269 , 2021
Link:
https://doi.org/10.3390/..
?
4
Gene Expression Profile of Human Mesenchymal Stromal Cells ..:
Zielniok, Katarzyna
;
Burdzinska, Anna
;
Murcia Pienkowski, Victor
...
International Journal of Molecular Sciences. 22 (2021) 15 - p. 8160 , 2021
Link:
https://doi.org/10.3390/..
?
5
Epithelial Cells of Deep Infiltrating Endometriosis Harbor ..:
Koppolu, Agnieszka
;
Maksym, Radosław B.
;
Paskal, Wiktor
...
Cells. 10 (2021) 4 - p. 749 , 2021
Link:
https://doi.org/10.3390/..
?
6
AP4B1-associated hereditary spastic paraplegia: expansion o..:
Szczałuba, Krzysztof
;
Mierzewska, Hanna
;
Śmigiel, Robert
...
Journal of Applied Genetics. 61 (2020) 2 - p. 213-218 , 2020
Link:
https://doi.org/10.1007/..
?
7
FARSA mutations mimic phenylalanyl‐tRNA synthetase deficien..:
Krenke, Katarzyna
;
Szczałuba, Krzysztof
;
Bielecka, Teresa
...
Clinical Genetics. 96 (2019) 5 - p. 468-472 , 2019
Link:
https://doi.org/10.1111/..
?
8
A case of severe trichothiodystrophy 3 in a neonate due to ..:
Michalska, Eliza
;
Koppolu, Agnieszka
;
Dobrzańska, Anna
..
European Journal of Medical Genetics. 62 (2019) 9 - p. 103557 , 2019
Link:
https://doi.org/10.1016/..
?
9
A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Doe..:
Kotlinowski, Jerzy
;
Bukowska-Strakova, Karolina
;
Koppolu, Agnieszka
...
Frontiers in Genetics. 10 (2019) - p. , 2019
Link:
https://doi.org/10.3389/..
?
10
Evidence for HNRNPH1 being another gene for Bain type syndr..:
Pilch, Jacek
;
Koppolu, Agnieszka A.
;
Walczak, Anna
...
Clinical Genetics. 94 (2018) 3-4 - p. 381-385 , 2018
Link:
https://doi.org/10.1111/..
?
11
Novel calcineurin A (PPP3CA) variant associated with epilep..:
Rydzanicz, Małgorzata
;
Wachowska, Małgorzata
;
Cook, Erik C.
...
European Journal of Human Genetics. 27 (2018) 1 - p. 61-69 , 2018
Link:
https://doi.org/10.1038/..
?
12
Novel de novo mutation affecting two adjacent aminoacids in..:
Smigiel, Robert
;
Biernacka, Anna
;
Biela, Mateusz
...
Journal of Human Genetics. 63 (2018) 4 - p. 517-520 , 2018
Link:
https://doi.org/10.1038/..
?
13
A novel monoallelic nonsense mutation in the NFKB2 gene doe..:
Kotlinowski, Jerzy
;
Bukowska-Straková, Karolina
;
Koppolu, Agnieszka
...
Frontiers in Genetics, T. 10. , 2019
Link:
https://ruj.uj.edu.pl/xm..
?
14
Higher Mutation Burden in High Proliferation Compartments o..:
Tomasz M. Grzywa
;
Agnieszka A. Koppolu
;
Wiktor Paskal
...
Molecular Oncology. , 2021
Link:
https://doi.org/10.3390/..
?
15
Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes S..:
Krzysztof Szczałuba
;
Małgorzata Rydzanicz
;
Anna Walczak
...
https://www.mdpi.com/2075-4418/11/7/1269. , 2021
Link:
https://doi.org/10.3390/..
1-15