E-LIB Suche - Ergebnisse für: Gasperowicz, Piotr

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/..

2

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/..

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

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/..

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/..

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

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/..

9

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/..

10

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/..

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/..

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/..