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Ing. Lucie Sedláčková Ph.D.
Akademický pracovník na 2. lékařská fakulta
32 publikací
Publikace
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
2. lékařská fakulta
publication
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5
2023 |
2. lékařská fakulta
publication
In response to: Fatal status epilepticus-the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer : Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
2022 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review
2021 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients
2021 |
2. lékařská fakulta
publication
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
2021 |
2. lékařská fakulta
publication
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 |
Ústřední knihovna
publication
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
2021 |
2. lékařská fakulta
publication
Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome
2020 |
2. lékařská fakulta
publication
Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases
2020 |
2. lékařská fakulta
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