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Vlckova, Marketa
113  results:
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1

Yield of exome sequencing in patients with developmental an..:

Sedlackova, Lucie ; Sterbova, Katalin ; Vlckova, Marketa...
European Journal of Paediatric Neurology.  48 (2024)  - p. 17-29 , 2024
Link: https://doi.org/10.1016/..
 
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2

The expanding clinical and genetic spectrum of DYNC1H1-rela..:

Möller, Birk ; Becker, Lena-Luise ; Saffari, Afshin...
Brain.  , 2024
Link: https://doi.org/10.1093/..
 
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3

A progressive KY myopathy could be caused by a missense pat..:

Uhrova‐Meszarosova, Anna ; Vlckova, Marketa ; Rennerova, Ladislava...
Clinical Genetics.  103 (2023)  6 - p. 723-725 , 2023
Link: https://doi.org/10.1111/..
 
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4

A 5‐year‐old boy with super‐refractory status epilepticus a..:

Straka, Barbora ; Koblížek, Miroslav ; Splítková, Barbora...
Epilepsia Open.  9 (2023)  1 - p. 424-431 , 2023
Link: https://doi.org/10.1002/..
 
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5

A founder COL4A4 pathogenic variant resulting in autosomal ..:

Plevova, Pavlina ; Indrakova, Jana ; Savige, Judy...
Frontiers in Medicine.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

Genetic testing in children enrolled in epilepsy surgery pr..:

Straka, Barbora ; Splitkova, Barbora ; Vlckova, Marketa...
European Journal of Paediatric Neurology.  47 (2023)  - p. 80-87 , 2023
Link: https://doi.org/10.1016/..
 
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7

A new patient with congenital myasthenic syndrome type 20 d..:

Vlckova, Marketa ; Prchalova, Darina ; Zimmermann, Pavel...
Molecular Genetics & Genomic Medicine.  11 (2023)  6 - p. , 2023
Link: https://doi.org/10.1002/..
 
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8

COL4A1 mutation‐related disorder presenting as fetal intrac..:

Straka, Barbora ; Vlčková, Markéta ; Libá, Zuzana...
Epilepsia Open.  8 (2022)  1 - p. 211-216 , 2022
Link: https://doi.org/10.1002/..
 
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9

A unique coincidence of a 17q12 deletion and duplication in..:

Zunova, Hana ; Stolfa, Miroslav ; Kunikova, Tereza...
American Journal of Medical Genetics Part A.  191 (2022)  3 - p. 870-877 , 2022
Link: https://doi.org/10.1002/..
 
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10

Severe neurodevelopmental disorder with intractable seizure..:

Sedláčková, Lucie ; Laššuthová, Petra ; Štěrbová, Katalin...
European Journal of Medical Genetics.  64 (2021)  9 - p. 104263 , 2021
Link: https://doi.org/10.1016/..
 
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11

GATOR1-related focal cortical dysplasia in epilepsy surgery..:

Benova, Barbora ; Sanders, Maurits W.C.B. ; Uhrova-Meszarosova, Anna...
European Journal of Paediatric Neurology.  30 (2021)  - p. 88-96 , 2021
Link: https://doi.org/10.1016/..
 
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12

Genotype-phenotype correlations in SCN8A-related disorders ..:

Johannesen, Katrine M ; Liu, Yuanyuan ; Koko, Mahmoud...
Brain.  145 (2021)  9 - p. 2991-3009 , 2021
Link: https://doi.org/10.1093/..
 
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13

A novel variant in YWHAG further supports phenotype of deve..:

Sedláčková, Lucie ; Štěrbová, Katalin ; Vlčková, Markéta..
American Journal of Medical Genetics Part A.  185 (2021)  5 - p. 1363-1365 , 2021
Link: https://doi.org/10.1002/..
 
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14

Rare IDH1 variants are common in pediatric hemispheric diff..:

Sumerauer, David ; Krskova, Lenka ; Vicha, Ales...
Acta Neuropathologica.  139 (2020)  4 - p. 795-797 , 2020
Link: https://doi.org/10.1007/..
 
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15

The Key Role of Purine Metabolism in the Folate-Dependent P..:

Geryk, Jan ; Krsička, Daniel ; Vlčková, Markéta...
Metabolites.  10 (2020)  5 - p. 184 , 2020
Link: https://doi.org/10.3390/..
 
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