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Jamsheer, Aleksander
170
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Online (170)
Mediatypes
Articles (Online) (60)
OpenAccess-fulltext (110)
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1
Evaluating the efficacy of a ketogenic diet in managing dru..:
Winczewska-Wiktor, Anna
;
Braszka, Małgorzata
;
Harada-Laszlo, Mia
...
Epilepsy & Behavior. 150 (2024) - p. 109535 , 2024
Link:
https://doi.org/10.1016/..
?
2
The landscape of the COVID-19 pandemic in Poland emerging f..:
Mirska, Barbara
;
Zenczak, Michal
;
Nowis, Katarzyna
...
Scientific Reports. 14 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
3
Molecular landscape of congenital vertebral malformations: ..:
Szoszkiewicz, Anna
;
Bukowska-Olech, Ewelina
;
Jamsheer, Aleksander
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
4
Development of a tool for predicting HNF1B mutations in chi..:
Kołbuc, Marcin
;
Kołek, Mateusz F.
;
Motyka, Rafał
...
Pediatric Nephrology. 39 (2024) 6 - p. 1847-1858 , 2024
Link:
https://doi.org/10.1007/..
?
5
Chromatinopathies: insight in clinical aspects and underlyi..:
Bukowska-Olech, Ewelina
;
Majchrzak-Celińska, Aleksandra
;
Przyborska, Marta
.
Journal of Applied Genetics. , 2024
Link:
https://doi.org/10.1007/..
?
6
HOXD13-associated synpolydactyly: Extending and validating ..:
Gottschalk, Annika
;
Sczakiel, Henrike L.
;
Hülsemann, Wiebke
...
Genetics in Medicine. 25 (2023) 11 - p. 100928 , 2023
Link:
https://doi.org/10.1016/..
?
7
NGS analysis of collagen type I genes in Polish patients wi..:
Sałacińska, Kinga
;
Pinkier, Iwona
;
Rutkowska, Lena
...
Frontiers in Endocrinology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
8
A genotype–phenotype correlation in split-hand/foot malform..:
Sowińska-Seidler, Anna
;
Socha, Magdalena
;
Szoszkiewicz, Anna
..
Frontiers in Molecular Biosciences. 10 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
9
Rare multiple congenital anomalies-hypotonia-seizures syndr..:
Bukowska-Olech, Ewelina
;
Glista, Filip
;
Dinwiddie, April
..
European Journal of Medical Genetics. 66 (2023) 1 - p. 104668 , 2023
Link:
https://doi.org/10.1016/..
?
10
Highly diverse phenotypes of mucopolysaccharidosis type III..:
Anikiej-Wiczenbach, Paulina
;
Mański, Arkadiusz
;
Milska-Musa, Katarzyna
...
Journal of Applied Genetics. 63 (2022) 3 - p. 535-542 , 2022
Link:
https://doi.org/10.1007/..
?
11
Results from Genetic Studies in Patients Affected with Cran..:
Bukowska-Olech, Ewelina
;
Sowińska-Seidler, Anna
;
Larysz, Dawid
...
Frontiers in Molecular Biosciences. 9 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
12
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplicati..:
Bukowska-Olech, Ewelina
;
Sowińska-Seidler, Anna
;
Wierzba, Jolanta
.
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
13
The pZRS non-coding regulatory mutation resulting in tripha..:
Potuijt, Jacob W. P.
;
Sowinska-Seidler, Anna
;
Bukowska-Olech, Ewelina
...
Molecular Genetics and Genomics. 297 (2022) 5 - p. 1343-1352 , 2022
Link:
https://doi.org/10.1007/..
?
14
Case report: The cardio-facio-cutaneous syndrome due to a n..:
Szczawińska-Popłonyk, Aleksandra
;
Popłonyk, Natalia
;
Niedziela, Marek
...
Frontiers in Pediatrics. 10 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
15
Identical IFT140 Variants Cause Variable Skeletal Ciliopath..:
Walczak-Sztulpa, Joanna
;
Wawrocka, Anna
;
Doornbos, Cenna
...
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
1-15