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Szymańska, Krystyna
95
results:
Search for persons
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Format
Online (94)
Print (1)
Mediatypes
Books (1)
Articles (Online) (42)
Bookchapter (Online) (2)
OpenAccess-fulltext (50)
Languages
polish (9)
english (83)
Sorted by: Relevance
Sorted by: Year
?
1
Phenotypic and functional assessment of two novel KCNQ2 gai..:
Bayat, Allan
;
Iavarone, Stefano
;
Miceli, Francesco
...
Neurotherapeutics. 21 (2024) 1 - p. e00296 , 2024
Link:
https://doi.org/10.1016/..
?
2
Clinical and molecular characteristics of Kabuki syndrome p..:
Boniel, Snir
;
Krajewska, Maria
;
Pyrżak, Beata
...
Frontiers in Genetics. 15 (2024) - p. , 2024
Link:
https://doi.org/10.3389/..
?
3
The case of fatal acute hemorrhagic necrotizing encephaliti..:
Mierzewska-Schmidt, Magdalena
;
Baranowski, Artur
;
Szymanska, Krystyna
...
International Journal of Infectious Diseases. 116 (2022) - p. 151-153 , 2022
Link:
https://doi.org/10.1016/..
?
4
The novel P330L pathogenic variant of aromatic amino acid d..:
Bisello, Giovanni
;
Kusmierska, Katarzyna
;
Verbeek, Marcel M.
...
Cellular and Molecular Life Sciences. 79 (2022) 6 - p. , 2022
Link:
https://doi.org/10.1007/..
?
5
A novel KEL c.1414‐1G>T allele in a polish patient with ant..:
Pelc‐Kłopotowska, Monika
;
Płoski, Rafał
;
Szczałuba, Krzysztof
...
Transfusion. 62 (2022) 9 - p. , 2022
Link:
https://doi.org/10.1111/..
?
6
FINCA syndrome—Defining neurobehavioral phenotype in surviv..:
Badura‐Stronka, Magdalena
;
Śmigiel, Robert
;
Rutkowska, Karolina
...
Molecular Genetics & Genomic Medicine. 10 (2022) 4 - p. , 2022
Link:
https://doi.org/10.1002/..
?
7
Authors' response to Dr Finsterer's comment "Exclude differ..:
Mierzewska-Schmidt, Magdalena
;
Baranowski, Artur
;
Szymanska, Krystyna
...
International Journal of Infectious Diseases. 118 (2022) - p. 52-53 , 2022
Link:
https://doi.org/10.1016/..
?
8
Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasm..:
Ługowska, Agnieszka
;
Baydakova, Galina
;
Ilyushkina, Alex
...
Diagnostics. 11 (2021) 2 - p. 320 , 2021
Link:
https://doi.org/10.3390/..
?
9
Kabuki Syndrome—Clinical Review with Molecular Aspects:
Boniel, Snir
;
Szymańska, Krystyna
;
Śmigiel, Robert
.
Genes. 12 (2021) 4 - p. 468 , 2021
Link:
https://doi.org/10.3390/..
?
10
Variants of ATP1A3 in residue 756 cause a separate phenotyp..:
Biela, Mateusz
;
Rydzanicz, Malgorzata
;
Szymanska, Krystyna
...
Molecular Genetics & Genomic Medicine. 9 (2021) 9 - p. , 2021
Link:
https://doi.org/10.1002/..
?
11
De novo stop-loss variants in CLDN11 cause hypomyelinating ..:
Riedhammer, Korbinian M
;
Stockler, Sylvia
;
Ploski, Rafal
...
Brain. 144 (2020) 2 - p. 411-419 , 2020
Link:
https://doi.org/10.1093/..
?
12
Neurodevelopmental phenotype caused by a de novo PTPN4 sing..:
Szczałuba, Krzysztof
;
Chmielewska, Joanna J.
;
Sokolowska, Olga
...
Clinical Genetics. 94 (2018) 6 - p. 581-585 , 2018
Link:
https://doi.org/10.1111/..
?
13
Novel GNB1 de novo mutation in a patient with neurodevelopm..:
Szczałuba, Krzysztof
;
Biernacka, Anna
;
Szymańska, Krystyna
...
European Journal of Medical Genetics. 61 (2018) 3 - p. 157-160 , 2018
Link:
https://doi.org/10.1016/..
?
14
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/..
?
15
Next Generation Sequencing in Neurology and Psychiatry:
, In:
Clinical Applications for Next-Generation Sequencing
,
Szymańska, Krystyna
;
Szczałuba, Krzysztof
;
Kostera-Pruszczyk, Anna
. - p. 97-136 , 2016
Link:
https://doi.org/10.1016/..
1-15