E-LIB Suche - Ergebnisse für: Seeman, Pavel

1

Yield of exome sequencing in patients with developmental an..:

Sedlackova, Lucie ; Sterbova, Katalin ; Vlckova, Marketa...
European Journal of Paediatric Neurology. 48 (2024) - p. 17-29 , 2024

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

2

A progressive KY myopathy could be caused by a missense pat..:

Uhrova‐Meszarosova, Anna ; Vlckova, Marketa ; Rennerova, Ladislava...
Clinical Genetics. 103 (2023) 6 - p. 723-725 , 2023

Link: https://doi.org/10.1111/..

3

Czech family confirms the new 1p36.13‐1p36.12 microdeletion..:

Seeman, Pavel ; Čejnová, Vlasta ; Černá, Šárka...
Clinical Genetics. 102 (2022) 3 - p. 244-245 , 2022

Link: https://doi.org/10.1111/..

4

The NBN founder mutation—Evidence for a country specific di..:

Chrzanowska, Krystyna H. ; Seemanova, Eva ; Varon, Raymonda...
Cancer Reports. 6 (2022) 2 - p. , 2022

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

5

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary S..:

Schob, Claudia ; Hempel, Maja ; Safka Brozkova, Dana...
Annals of Neurology. 90 (2021) 5 - p. 738-750 , 2021

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

6

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—..:

Safka Brozkova, Dana ; Uhrova Meszarosova, Anna ; Lassuthova, Petra...
Genes. 12 (2021) 5 - p. 684 , 2021

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

7

Severe neurodevelopmental disorder with intractable seizure..:

Sedláčková, Lucie ; Laššuthová, Petra ; Štěrbová, Katalin...
European Journal of Medical Genetics. 64 (2021) 9 - p. 104263 , 2021

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

8

Two types of recessive hereditary spastic paraplegia in Rom..:

Meszarosova, Anna Uhrova ; Seeman, Pavel ; Jencik, Jan...
Neuroscience Letters. 721 (2020) - p. 134800 , 2020

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

9

Novel variant in the KCNK9 gene in a girl with Birk Barel s..:

Šedivá, Marie ; Laššuthová, Petra ; Zámečník, Josef...
European Journal of Medical Genetics. 63 (2020) 1 - p. 103619 , 2020

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

10

Spectrum and frequencies of non GJB2 gene mutations in Czec..:

Safka Brozkova, Dana ; Poisson Marková, Simona ; Mészárosová, Anna Uhrová...
Clinical Genetics. 98 (2020) 6 - p. 548-554 , 2020

Link: https://doi.org/10.1111/..

11

Variant c.2158-2A>G in MANBA is an important and frequent c..:

Safka Brozkova, Dana ; Varga, Lukas ; Uhrova Meszarosova, Anna...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

12

Clinical features and blood iron metabolism markers in chil..:

Belohlavkova, Anezka ; Sterbova, Katalin ; Betzler, Cornelia...
European Journal of Paediatric Neurology. 28 (2020) - p. 81-88 , 2020

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

13

Prot2HG: a database of protein domains mapped to the human ..:

Zuchner, Stephan ; Lassuthova, Petra ; Seeman, Pavel...
Database. 2020 (2020) - p. , 2020

Link: https://doi.org/10.1093/..

14

Diagnosis and Differential Diagnosis of Disorders of Hearin..:

, In: Phoniatrics I; European Manual of Medicine,

Atas, Ahmet ; Aksoy, Songul ; am Zehnhoff-Dinnesen, Antoinette... - p. 857-961 , 2019

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

15

Basics of Disorders of Hearing Development:

, In: Phoniatrics I; European Manual of Medicine,

am Zehnhoff-Dinnesen, Antoinette ; Albuquerque, Wendy ; Bolz, Hanno J.... - p. 751-836 , 2019

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