E-LIB Suche - Ergebnisse für: Bendova, Sarka

1

Spliceosome malfunction causes neurodevelopmental disorders..:

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

2

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna...
Molecular Genetics & Genomic Medicine. 12 (2024) 1 - p. , 2024

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

3

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/..

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

Haploinsufficiency of PRR12 causes a spectrum of neurodevel..:

Chowdhury, Fuad ; Wang, Lei ; Al-Raqad, Mohammed...
Genetics in Medicine. 23 (2021) 7 - p. 1234-1245 , 2021

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

6

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/..

7

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/..

8

The importance of advanced parental age in the origin of ne..:

Snajderova, Marta ; Riccardi, Vincent M. ; Petrak, Borivoj...
American Journal of Medical Genetics Part A. 158A (2012) 3 - p. 519-523 , 2012

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

9

The TP53 gene promoter is not methylated in families sugges..:

Finkova, Alena ; Vazna, Alzbeta ; Hrachovina, Ondrej...
Cancer Genetics and Cytogenetics. 193 (2009) 1 - p. 63-66 , 2009

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

10

Novel mutations in the NF1 gene in Czech patients with neur..:

Bendova, Sarka ; Krepelova, Anna ; Petrak, Borivoj...
Journal of Molecular Neuroscience. 31 (2007) 3 - p. 273-279 , 2007

Link: https://doi.org/10.1385/..

11

A girl with neurofibromatosis type 1, atypical autism and m..:

Havlovicova, Marketa ; Novotna, Drahuse ; Kocarek, Eduard...
American Journal of Medical Genetics Part A. 143A (2006) 1 - p. 76-81 , 2006

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

12

Identification of five new families strengthens the link be..:

Krutilkova, Vera ; Trkova, Marie ; Fleitz, Julie...
European Journal of Cancer. 41 (2005) 11 - p. 1597-1603 , 2005

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

13

Lessons from two series by physicians and caregivers' self‐..:

Ruault, Valentin ; Burger, Pauline ; Gradels‐Hauguel, Johanna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10801341/. , 2024

Link: http://www.ncbi.nlm.nih...

14

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/. , 2024

Link: http://www.ncbi.nlm.nih...

15

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

Vlckova, Marketa ; Prchalova, Darina ; Zimmermann, Pavel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10265034/. , 2023

Link: http://www.ncbi.nlm.nih...