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Szymanska, Krystyna
95  Ergebnisse:
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1

Phenotypic and functional assessment of two novel KCNQ2 gai..:

Bayat, Allan ; Iavarone, Stefano ; Miceli, Francesco...
Neurotherapeutics.  21 (2024)  1 - p. e00296 , 2024
Link: https://doi.org/10.1016/..
 
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2

Clinical and molecular characteristics of Kabuki syndrome p..:

Boniel, Snir ; Krajewska, Maria ; Pyrżak, Beata...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

The case of fatal acute hemorrhagic necrotizing encephaliti..:

Mierzewska-Schmidt, Magdalena ; Baranowski, Artur ; Szymanska, Krystyna...
International Journal of Infectious Diseases.  116 (2022)  - p. 151-153 , 2022
Link: https://doi.org/10.1016/..
 
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4

The novel P330L pathogenic variant of aromatic amino acid d..:

Bisello, Giovanni ; Kusmierska, Katarzyna ; Verbeek, Marcel M....
Cellular and Molecular Life Sciences.  79 (2022)  6 - p. , 2022
Link: https://doi.org/10.1007/..
 
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5

A novel KEL c.1414‐1G>T allele in a polish patient with ant..:

Pelc‐Kłopotowska, Monika ; Płoski, Rafał ; Szczałuba, Krzysztof...
Transfusion.  62 (2022)  9 - p. , 2022
Link: https://doi.org/10.1111/..
 
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6

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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7

Authors' response to Dr Finsterer's comment "Exclude differ..:

Mierzewska-Schmidt, Magdalena ; Baranowski, Artur ; Szymanska, Krystyna...
International Journal of Infectious Diseases.  118 (2022)  - p. 52-53 , 2022
Link: https://doi.org/10.1016/..
 
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8

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasm..:

Ługowska, Agnieszka ; Baydakova, Galina ; Ilyushkina, Alex...
Diagnostics.  11 (2021)  2 - p. 320 , 2021
Link: https://doi.org/10.3390/..
 
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9

Kabuki Syndrome—Clinical Review with Molecular Aspects:

Boniel, Snir ; Szymańska, Krystyna ; Śmigiel, Robert.
Genes.  12 (2021)  4 - p. 468 , 2021
Link: https://doi.org/10.3390/..
 
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10

Variants of ATP1A3 in residue 756 cause a separate phenotyp..:

Biela, Mateusz ; Rydzanicz, Malgorzata ; Szymanska, Krystyna...
Molecular Genetics & Genomic Medicine.  9 (2021)  9 - p. , 2021
Link: https://doi.org/10.1002/..
 
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11

De novo stop-loss variants in CLDN11 cause hypomyelinating ..:

Riedhammer, Korbinian M ; Stockler, Sylvia ; Ploski, Rafal...
Brain.  144 (2020)  2 - p. 411-419 , 2020
Link: https://doi.org/10.1093/..
 
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12

Neurodevelopmental phenotype caused by a de novo PTPN4 sing..:

Szczałuba, Krzysztof ; Chmielewska, Joanna J. ; Sokolowska, Olga...
Clinical Genetics.  94 (2018)  6 - p. 581-585 , 2018
Link: https://doi.org/10.1111/..
 
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13

Novel GNB1 de novo mutation in a patient with neurodevelopm..:

Szczałuba, Krzysztof ; Biernacka, Anna ; Szymańska, Krystyna...
European Journal of Medical Genetics.  61 (2018)  3 - p. 157-160 , 2018
Link: https://doi.org/10.1016/..
 
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14

Novel calcineurin A (PPP3CA) variant associated with epilep..:

Rydzanicz, Małgorzata ; Wachowska, Małgorzata ; Cook, Erik C....
European Journal of Human Genetics.  27 (2018)  1 - p. 61-69 , 2018
Link: https://doi.org/10.1038/..
 
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15

Next Generation Sequencing in Neurology and Psychiatry:

, In: Clinical Applications for Next-Generation Sequencing,
Szymańska, Krystyna ; Szczałuba, Krzysztof ; Kostera-Pruszczyk, Anna. - p. 97-136 , 2016
Link: https://doi.org/10.1016/..
 
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