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Jurek, Marta
165  Ergebnisse:
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1

Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutat..:

Witkowski, Grzegorz ; Szulczyk, Bartlomiej ; Nurowska, Ewa...
International Journal of Molecular Sciences.  25 (2024)  3 - p. 1745 , 2024
Link: https://doi.org/10.3390/..
 
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2

Congenital coenzyme Q5-linked pathology: causal genetic ass..:

Dawidziuk, Mateusz ; Podwysocka, Aleksandra ; Jurek, Marta...
Journal of Applied Genetics.  64 (2023)  3 - p. 507-514 , 2023
Link: https://doi.org/10.1007/..
 
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3

De Novo ACTG1 Variant Expands the Phenotype and Genotype of..:

Dawidziuk, Mateusz ; Kutkowska-Kazmierczak, Anna ; Bukowska-Olech, Ewelina...
International Journal of Molecular Sciences.  23 (2022)  2 - p. 692 , 2022
Link: https://doi.org/10.3390/..
 
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4

Bilateral Pallidal Stimulation in a Family With Myoclonus D..:

Sobstyl, Michał ; Stapińska-Syniec, Angelika ; Zaremba, Jacek...
Neuromodulation: Technology at the Neural Interface.  , 2022
Link: https://doi.org/10.1111/..
 
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5

A Zebrafish/Drosophila Dual System Model for Investigating ..:

Bartoszewski, Slawomir ; Dawidziuk, Mateusz ; Kasica, Natalia...
Cells.  11 (2022)  17 - p. 2727 , 2022
Link: https://doi.org/10.3390/..
 
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6

Exome Sequencing Reveals Novel Variants and Expands the Gen..:

Dawidziuk, Mateusz ; Gambin, Tomasz ; Bukowska-Olech, Ewelina...
Genes.  12 (2021)  12 - p. 2014 , 2021
Link: https://doi.org/10.3390/..
 
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7

Speech Understanding by Children Diagnosed with Delayed Ver..:

Gerc, Krzysztof ; Jurek, Marta
Multidisciplinary Journal of School Education.  9 (2020)  1(17) - p. 173-198 , 2020
Link: https://doi.org/10.35765..
 
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8

Comprehensive genomic analysis of patients with disorders o..:

Wiszniewski, Wojciech ; Gawlinski, Pawel ; Gambin, Tomasz...
European Journal of Human Genetics.  26 (2018)  8 - p. 1121-1131 , 2018
Link: https://doi.org/10.1038/..
 
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9

Gene Conversion Between Cationic Trypsinogen (PRSS1) and th..:

Rygiel, Agnieszka Magdalena ; Beer, Sebastian ; Simon, Peter...
Human Mutation.  36 (2015)  3 - p. 350-356 , 2015
Link: https://doi.org/10.1002/..
 
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10

Expanding the phenotype associated with missense mutations ..:

Charzewska, Agnieszka ; Nawara, Magdalena ; Jakubiuk‐Tomaszuk, Anna...
American Journal of Medical Genetics Part A.  161 (2013)  7 - p. 1813-1816 , 2013
Link: https://doi.org/10.1002/..
 
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11

Novel A18T and pA29S substitutions in α-synuclein may be as..:

Hoffman-Zacharska, Dorota ; Koziorowski, Dariusz ; Ross, Owen A....
Parkinsonism & Related Disorders.  19 (2013)  11 - p. 1057-1060 , 2013
Link: https://doi.org/10.1016/..
 
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12

Mutations in the PLP1 gene residue p. Gly198 as the molecul..:

Hoffman-Zacharska, Dorota ; Kmieć, Tomasz ; Poznański, Jarosław..
Brain and Development.  35 (2013)  9 - p. 877-880 , 2013
Link: https://doi.org/10.1016/..
 
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13

Nuclear Import and Export Signals of Human Cohesins SA1/STA..:

Tarnowski, Leszek J. ; Kowalec, Piotr ; Milewski, Michał...
PLoS ONE.  7 (2012)  6 - p. e38740 , 2012
Link: https://doi.org/10.1371/..
 
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14

Novel de Novo Large Deletion in Cystic Fibrosis Transmembra..:

Norek, Aleksandra ; Stremska, Marta ; Sobczyńska-Tomaszewska, Agnieszka...
The Journal of Pediatrics.  159 (2011)  2 - p. 343-346.e1 , 2011
Link: https://doi.org/10.1016/..
 
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15

A Family With Paroxysmal Nonkinesigenic Dyskinesia: Genetic..:

Szczałuba, Krzysztof ; Jurek, Marta ; Szczepanik, Elz˙bieta...
Pediatric Neurology.  41 (2009)  2 - p. 135-138 , 2009
Link: https://doi.org/10.1016/..
 
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