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Gasperowicz, Piotr
51
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Online (51)
Mediatypes
Articles (Online) (27)
OpenAccess-fulltext (24)
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1
Developmental epileptic encephalopathy in DLG4‐related syna..:
Kassabian, Benedetta
;
Levy, Amanda M.
;
Gardella, Elena
...
Epilepsia. 65 (2024) 4 - p. 1029-1045 , 2024
Link:
https://doi.org/10.1111/..
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2
Epigenetic Findings in Twins with Esophageal Atresia:
Błoch, Michal
;
Gasperowicz, Piotr
;
Gerus, Sylwester
...
Genes. 14 (2023) 9 - p. 1822 , 2023
Link:
https://doi.org/10.3390/..
?
3
Allogenic Adipose-Derived Stem Cells in Diabetic Foot Ulcer..:
Mrozikiewicz-Rakowska, Beata
;
Szabłowska-Gadomska, Ilona
;
Cysewski, Dominik
...
International Journal of Molecular Sciences. 24 (2023) 2 - p. 1472 , 2023
Link:
https://doi.org/10.3390/..
?
4
Novel Loss of Function Variants in CENPF Including a Large ..:
Misceo, Doriana
;
Senaratne, Lokuliyanage Dona Samudita
;
Mero, Inger-Lise
...
Genes. 14 (2023) 11 - p. 1985 , 2023
Link:
https://doi.org/10.3390/..
?
5
Methylation Genome-Wide Profiling in Lowly and Highly Effic..:
Grzybek, Maciej
;
Flisikowski, Krzysztof
;
Giles, Tom
...
Applied Sciences. 13 (2023) 8 - p. 4798 , 2023
Link:
https://doi.org/10.3390/..
?
6
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/..
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7
Severe Infantile Axonal Neuropathy with Respiratory Failure..:
Stembalska, Agnieszka
;
Rydzanicz, Małgorzata
;
Walas, Wojciech
...
Genes. 13 (2022) 5 - p. 725 , 2022
Link:
https://doi.org/10.3390/..
?
8
Occurrence of Esophageal Atresia With Tracheoesophageal Fis..:
Klaniewska, Magdalena
;
Toczewski, Krystian
;
Rozensztrauch, Anna
...
Frontiers in Pediatrics. 9 (2021) - p. , 2021
Link:
https://doi.org/10.3389/..
?
9
A recurrent de novo variant supports KCNC2 involvement in t..:
Rydzanicz, Małgorzata
;
Zwoliński, Piotr
;
Gasperowicz, Piotr
...
American Journal of Medical Genetics Part A. 185 (2021) 11 - p. 3384-3389 , 2021
Link:
https://doi.org/10.1002/..
?
10
Mosaic IL6ST variant inducing constitutive GP130 cytokine r..:
Materna-Kiryluk, Anna
;
Pollak, Agnieszka
;
Gawalski, Karol
...
Human Molecular Genetics. 30 (2021) 3-4 - p. 226-233 , 2021
Link:
https://doi.org/10.1093/..
?
11
Intracardiac tumor as a rare manifestation of genetic syndr..:
Szczałuba, Krzysztof
;
Makuła, Ewa
;
Piórecka-Makuła, Anna
...
Journal of Applied Genetics. 61 (2020) 4 - p. 559-565 , 2020
Link:
https://doi.org/10.1007/..
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12
Leukoencephalopathy with Calcifications and Cysts—The First..:
Machnikowska-Sokołowska, Magdalena
;
Pilch, Jacek
;
Paprocka, Justyna
...
Brain Sciences. 10 (2020) 11 - p. 869 , 2020
Link:
https://doi.org/10.3390/..
?
13
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neon..:
Śmigiel, Robert
;
Biela, Mateusz
;
Szmyd, Krzysztof
...
Journal of Clinical Medicine. 9 (2020) 7 - p. 2220 , 2020
Link:
https://doi.org/10.3390/..
?
14
Defining the clinical-genetic and neuroradiological feature..:
Nicita, Francesco
;
Stregapede, Fabrizia
;
Tessa, Alessandra
...
Journal of Neurology. 266 (2019) 11 - p. 2657-2664 , 2019
Link:
https://doi.org/10.1007/..
?
15
Multiple Differentially Methylated Regions Specific to Kera..:
Kabza, Michal
;
Karolak, Justyna A.
;
Rydzanicz, Malgorzata
...
Investigative Opthalmology & Visual Science. 60 (2019) 5 - p. 1501 , 2019
Link:
https://doi.org/10.1167/..
1-15