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MUDr. Markéta Vlčková Ph.D.
Akademický pracovník na 2. lékařská fakulta
72 publikací
Publikace
publication
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
2022 |
2. lékařská fakulta
publication
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
2021 |
Ústřední knihovna
publication
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
2019 |
2. lékařská fakulta
publication
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature
2018 |
2. lékařská fakulta
publication
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
2018 |
2. lékařská fakulta
publication
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy
2017 |
2. lékařská fakulta
publication
Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach
2017 |
2. lékařská fakulta
publication
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
2015 |
2. lékařská fakulta
publication
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations
2015 |
2. lékařská fakulta
publication
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
2015 |
2. lékařská fakulta
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