E-LIB Suche - Ergebnisse für: Sedlacek, Zdenek

1

Expanded phenotypic spectrum of neurodevelopmental and neur..:

Layo-Carris, Dana E. ; Lubin, Emily E. ; Sangree, Annabel K....
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

2

Disruption of OVOL2 Distal Regulatory Elements as a Possibl..:

Dudakova, Lubica ; Noskova, Lenka ; Kmoch, Stanislav...
Human Mutation. 2024 (2024) - p. 1-10 , 2024

Link: https://doi.org/10.1155/..

3

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
Journal of Clinical Investigation. 134 (2024) 1 - p. , 2024

Link: https://doi.org/10.1172/..

4

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/..

5

Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2..:

Necpál, Ján ; Zech, Michael ; Valachová, Alica...
Parkinsonism & Related Disorders. 77 (2020) - p. 87-88 , 2020

Link: https://doi.org/10.1016/..

6

Parental gonadal but not somatic mosaicism leading to de no..:

Hancarova, Miroslava ; Havlovicova, Marketa ; Putzova, Martina...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2119-2123 , 2019

Link: https://doi.org/10.1002/..

7

Teaching a difficult topic using a problem-based concept re..:

Prochazkova, Kamila ; Novotny, Petr ; Hancarova, Miroslava..
BMC Medical Education. 19 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

8

A novel variant of C12orf4 in a consanguineous Armenian fam..:

Hancarova, Miroslava ; Babikyan, Davit ; Bendova, Sarka...
Molecular Genetics & Genomic Medicine. 7 (2019) 9 - p. , 2019

Link: https://doi.org/10.1002/..

9

The Valley of the Bees

Arts & Culture;Culture & Society

Vlacil, Frantisek ; Korner, Vladimir ; Korner, Vladimir... , 2019

Link: http://www.socialismonfi..

10

Functional analysis of genetic variations in the promoter a..:

Kuchtiak, Viktor ; Cerny, Jiri ; Benes, Vladimir...
IBRO Reports. 6 (2019) - p. S272 , 2019

Link: https://doi.org/10.1016/..

11

A boy with developmental delay and mosaic supernumerary inv..:

Tesner, Pavel ; Drabova, Jana ; Stolfa, Miroslav...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

12

Very short DNA segments can be detected and handled by the ..:

Slamova, Zuzana ; Nazaryan-Petersen, Lusine ; Mehrjouy, Mana M....
Human Mutation. 39 (2018) 5 - p. 709-716 , 2018

Link: https://doi.org/10.1002/..

13

Association of 17q24.2‐q24.3 deletions with recognizable ph..:

Hancarova, Miroslava ; Malikova, Marcela ; Kotrova, Michaela...
American Journal of Medical Genetics Part A. 176 (2018) 6 - p. 1438-1442 , 2018

Link: https://doi.org/10.1002/..

14

Hotspots of missense mutation identify neurodevelopmental d..:

Geisheker, Madeleine R ; Heymann, Gabriel ; Wang, Tianyun...
Nature Neuroscience. 20 (2017) 8 - p. 1043-1051 , 2017

Link: https://doi.org/10.1038/..

15

CpG Methylation, a Parent-of-Origin Effect for Maternal-Bia..:

Barbé, Lise ; Lanni, Stella ; López-Castel, Arturo...
The American Journal of Human Genetics. 100 (2017) 3 - p. 488-505 , 2017

Link: https://doi.org/10.1016/..