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X
Szymanska, Krystyna
50  Ergebnisse:
OpenAccess-Volltexte X
Personensuche X
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1

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

Bisello, Giovanni ; Kusmierska, Katarzyna ; Verbeek, Marcel M...
info:eu-repo/semantics/altIdentifier/pmid/35593933.  , 2022
Link: http://hdl.handle.net/11..
 
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2

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

Ługowska, Agnieszka ; Baydakova, Galina ; Ilyushkina, Alex...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7920438/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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3

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

Biela, Mateusz ; Rydzanicz, Malgorzata ; Szymanska, Krystyna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457706/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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4

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

Rydzanicz, Małgorzata ; Wachowska, Małgorzata ; Cook, Erik C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6303256/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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5

The case of fatal acute hemorrhagic necrotizing encephaliti..:

Magdalena Mierzewska-Schmidt ; Artur Baranowski ; Krystyna Szymanska...
http://www.sciencedirect.com/science/article/pii/S1201971221012327.  , 2022
Link: https://doi.org/10.1016/..
 
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6

FINCA syndrome—Defining neurobehavioral phenotype in surviv..:

Magdalena Badura‐Stronka ; Robert Śmigiel ; Karolina Rutkowska...
https://doi.org/10.1002/mgg3.1899.  , 2022
Link: https://doi.org/10.1002/..
 
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7

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

Magdalena Mierzewska-Schmidt ; Artur Baranowski ; Krystyna Szymanska...
http://www.sciencedirect.com/science/article/pii/S1201971222000923.  , 2022
Link: https://doi.org/10.1016/..
 
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8

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

Agnieszka Ługowska ; Galina Baydakova ; Alex Ilyushkina...
Pathology and Molecular Diagnostics.  , 2021
Link: https://doi.org/10.3390/..
 
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9

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

Mateusz Biela ; Malgorzata Rydzanicz ; Krystyna Szymanska...
https://doi.org/10.1002/mgg3.1772.  , 2021
Link: https://doi.org/10.1002/..
 
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10

POLG gene mutation. Clinico-neuropathological study:

Sylwia Tarka ; Milena Laure-Kamionowska ; Teresa Wierzba-Bobrowicz...
https://www.termedia.pl/POLG-gene-mutation-Clinico-neuropathological-study,20,42969,1,1.html.  , 2021
Link: https://doi.org/10.5114/..
 
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11

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

Agnieszka Ługowska ; Galina Baydakova ; Alex Ilyushkina...
https://www.mdpi.com/2075-4418/11/2/320.  , 2021
Link: https://doi.org/10.3390/..
 
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12

Kabuki Syndrome—Clinical Review with Molecular Aspects:

Snir Boniel ; Krystyna Szymańska ; Robert Śmigiel.
Human Genomics and Genetic Diseases.  , 2021
Link: https://doi.org/10.3390/..
 
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13

Kabuki Syndrome—Clinical Review with Molecular Aspects:

Snir Boniel ; Krystyna Szymańska ; Robert Śmigiel.
https://www.mdpi.com/2073-4425/12/4/468.  , 2021
Link: https://doi.org/10.3390/..
 
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14

Clinico-pathological correlation in case of BRAT1 mutation:

Krystyna Szymańska ; Milena Laure-Kamionowska ; Krzysztof Szczałuba...
https://www.termedia.pl/Clinico-pathological-correlation-in-case-of-BRAT1-mutation,20,34472,1,1.html.  , 2018
Link: https://doi.org/10.5114/..
 
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15

The Analysis of Genetic Aberrations in Children with Inheri..:

Krystyna Szymańska ; Krzysztof Szczałuba ; Agnieszka Ługowska...
http://dx.doi.org/10.1155/2014/424796.  , 2014
Link: https://doi.org/10.1155/..
 
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