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RASopathies
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prof. Ing. Zdeněk Sedláček DrSc.
Academic staff at Second Faculty of Medicine
17 classes
118 publications
Classes
class
Medical Biology I
+1
D0102337 |
Second Faculty of Medicine
class
Lékařská biologie II
+1
D0103039 |
Second Faculty of Medicine
class
Medical biology and human genetics
D09010005 |
Second Faculty of Medicine
class
Cell
+1
D1101001 |
Second Faculty of Medicine
class
Biology I.
+1
D1102338 |
Second Faculty of Medicine
class
Biology II.
+1
D1103040 |
Second Faculty of Medicine
class
Medical biology I
+1
DA0102337 |
Second Faculty of Medicine
class
Medical Biology II
+1
DA0103039 |
Second Faculty of Medicine
class
OS - Advances in Molecular Genetics
+1
DV01079 |
Second Faculty of Medicine
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Publications
publication
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024 |
Second Faculty of Medicine
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
2021 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021 |
Second Faculty of Medicine
publication
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
2021 |
Second Faculty of Medicine
publication
Genetics of neurodevelopmental disorders
2021 |
Second Faculty of Medicine
publication
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
2020 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020 |
Second Faculty of Medicine
publication
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
2019 |
First Faculty of Medicine, Second Faculty of Medicine
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