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Badura‐Stronka, Magdalena
91  Ergebnisse:
Personensuche X
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1

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/..
 
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2

First case series of Polish patients with cerebrotendinous ..:

Badura‐Stronka, Magdalena ; Hirschfeld, Adam Sebastian ; Winczewska‐Wiktor, Anna...
Clinical Genetics.  101 (2021)  2 - p. 190-207 , 2021
Link: https://doi.org/10.1111/..
 
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3

Co‐occurrence of Jalili syndrome and muscular overgrowth:

Wawrocka, Anna ; Walczak‐Sztulpa, Joanna ; Badura‐Stronka, Magdalena...
American Journal of Medical Genetics Part A.  173 (2017)  8 - p. 2280-2283 , 2017
Link: https://doi.org/10.1002/..
 
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4

Parental age as a risk factor for isolated congenital malfo..:

Materna‐Kiryluk, Anna ; Wiśniewska, Katarzyna ; Badura‐Stronka, Magdalena...
Paediatric and Perinatal Epidemiology.  23 (2008)  1 - p. 29-40 , 2008
Link: https://doi.org/10.1111/..
 
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5

Validation of targeted next-generation sequencing panels in..:

Badura-Stronka, Magdalena ; Wołyńska, Katarzyna ; Winczewska-Wiktor, Anna...
Frontiers in Neurology.  14 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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6

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/..
 
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7

Broadening the phenotypic spectrum of the presumably epilep..:

Badura-Stronka, Magdalena ; Kuszel, Łukasz ; Wencel-Warot, Agnieszka...
Epilepsy Research.  190 (2023)  - p. 107101 , 2023
Link: https://doi.org/10.1016/..
 
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8

The clinical phenotype with gastrostomy and abdominal wall ..:

Szczawińska-Popłonyk, Aleksandra ; Popłonyk, Natalia ; Badura-Stronka, Magdalena...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

Germline pathogenic variants in HNRNPU are associated with ..:

Lee, Sunwoo ; Ochoa, Eguzkine ; Badura-Stronka, Magdalena...
European Journal of Human Genetics.  31 (2023)  9 - p. 1040-1047 , 2023
Link: https://doi.org/10.1038/..
 
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10

Central Apneas Due to the CLIFAHDD Syndrome Successfully Tr..:

Winczewska-Wiktor, Anna ; Hirschfeld, Adam Sebastian ; Badura-Stronka, Magdalena...
International Journal of Environmental Research and Public Health.  19 (2022)  2 - p. 775 , 2022
Link: https://doi.org/10.3390/..
 
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11

Analysis of Factors That May Affect the Effectiveness of Ke..:

Winczewska-Wiktor, Anna ; Hirschfeld, Adam Sebastian ; Badura-Stronka, Magdalena..
Journal of Clinical Medicine.  11 (2022)  3 - p. 606 , 2022
Link: https://doi.org/10.3390/..
 
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12

Clinical and immunological assessment of APDS2 with feature..:

Szczawińska-Popłonyk, Aleksandra ; Bernat-Sitarz, Katarzyna ; Schwartzmann, Eyal..
Allergologia et Immunopathologia.  50 (2022)  4 - p. 1-9 , 2022
Link: https://doi.org/10.15586..
 
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13

CLN8 Mutations Presenting with a Phenotypic Continuum of Ne..:

Badura-Stronka, Magdalena ; Winczewska-Wiktor, Anna ; Pietrzak, Anna...
Genes.  12 (2021)  7 - p. 956 , 2021
Link: https://doi.org/10.3390/..
 
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14

Clinical characteristics of Polish patients with molecularl..:

Jakubiak, Aleksandra ; Szczałuba, Krzysztof ; Badura-Stronka, Magdalena...
Journal of Applied Genetics.  , 2021
Link: https://doi.org/10.1007/..
 
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15

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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