E-LIB Suche - Ergebnisse für: Plevova, Pavlina

1

Correction: Consensus statement on standards and guidelines..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
European Journal of Human Genetics. 32 (2023) 1 - p. 132-132 , 2023

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

2

A founder COL4A4 pathogenic variant resulting in autosomal ..:

Plevova, Pavlina ; Indrakova, Jana ; Savige, Judy...
Frontiers in Medicine. 10 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

Consensus statement on standards and guidelines for the mol..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
European Journal of Human Genetics. 29 (2021) 8 - p. 1186-1197 , 2021

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

4

Moderate sensorineural hearing loss is typical for DFNB16 c..:

Čada, Zdeněk ; Šafka Brožková, Dana ; Balatková, Zuzana...
European Archives of Oto-Rhino-Laryngology. 276 (2019) 12 - p. 3353-3358 , 2019

Link: https://doi.org/10.1007/..

5

Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-S..:

Plevova, Pavlina ; Tvrda, Petra ; Paprskarova, Martina...
Medicina. 54 (2018) 2 - p. 28 , 2018

Link: https://doi.org/10.3390/..

6

Familial hematuria: A review:

Plevová, Pavlína ; Gut, Josef ; Janda, Jan
Medicina. 53 (2017) 1 - p. 1-10 , 2017

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

7

Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro..:

Musova, Zuzana ; Sedlacek, Zdenek ; Mazanec, Radim...
The Cerebellum. 12 (2012) 2 - p. 155-161 , 2012

Link: https://doi.org/10.1007/..

8

Four novel point mutations in the PMP22 gene with phenotype..:

Brožková, Dana ; Mazanec, Radim ; Rychlý, Zdeněk...
Muscle & Nerve. 44 (2011) 5 - p. 819-821 , 2011

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

9

Elejalde syndrome—A case report:

Šilhánová, Eva ; Plevová, Pavlína ; Čuřík, Romuald..
American Journal of Medical Genetics Part A. 140A (2006) 20 - p. 2223-2226 , 2006

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

10

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/..

11

Epidermal growth factor receptor expression in colorectal t..:

Plevová, Pavlína ; Sedláková, Eva ; Papežová, Martina...
Virchows Archiv. 445 (2004) 1 - p. 99-100 , 2004

Link: https://doi.org/10.1007/..

12

Expression of the hMLH1 and hMSH2 proteins in normal tissue..:

Plevová, Pavlína ; Sedláková, Eva ; Zapletalová, Jana...
Virchows Archiv. 446 (2004) 2 - p. 112-119 , 2004

Link: https://doi.org/10.1007/..

13

A founder COL4A4 pathogenic variant resulting in autosomal ..:

Plevova, Pavlina ; Indrakova, Jana ; Savige, Judy...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9948603/. , 2023

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

14

Correction: Consensus statement on standards and guidelines..:

Savige, Judy ; Storey, Helen ; Watson, Elizabeth...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10772080/. , 2023

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

15

Guidelines for Genetic Testing and Management of Alport Syn..:

Savige, Judy ; Lipska-Zietkiewicz, Beata S ; Watson, Elizabeth...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8763160/. , 2022

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