Detalhe da pesquisa
1.
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Clin Genet
; 104(5): 542-553, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37526466
2.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Hum Mutat
; 43(10): 1347-1353, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35731190
3.
Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.
Epilepsy Behav
; 128: 108564, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35065395
4.
Next generation sequencing and its application in the diagnostics of neuromuscular diseases.
Cesk Patol
; 57(3): 150-153, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34551563
5.
The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.
Prague Med Rep
; 119(4): 156-164, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30779700
6.
Malignant hyperthermia in Czechia and Slovakia.
Br J Anaesth
; 129(2): e41-e43, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35718563
7.
[Familial hypercholesterolemia in the Czech Republic in 2016]. / Familiární hypercholesterolemie v Ceské republice v roce 2016.
Vnitr Lek
; 62(11): 924-928, 2016.
Artigo
Tcheco
| MEDLINE | ID: mdl-28128581
8.
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
BMC Neurol
; 14: 154, 2014 Aug 19.
Artigo
Inglês
| MEDLINE | ID: mdl-25135358
9.
Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic.
Diagnostics (Basel)
; 11(6)2021 May 28.
Artigo
Inglês
| MEDLINE | ID: mdl-34071626
10.
Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia.
BMC Med Genet
; 11: 115, 2010 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-20663204
11.
Types of congenital nonsyndromic ichthyoses.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
; 164(4): 357-365, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33087941
12.
Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact.
Front Genet
; 11: 691, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32695144
13.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.
J Neuromuscul Dis
; 7(2): 153-166, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32039858
14.
Bending of DNA duplexes with mutation motifs.
DNA Res
; 26(4): 341-352, 2019 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31230075
15.
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Orphanet J Rare Dis
; 14(1): 92, 2019 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31046801
16.
Quantitative analysis of CAPN3 transcripts in LGMD2A patients: involvement of nonsense-mediated mRNA decay.
Neuromuscul Disord
; 17(2): 143-7, 2007 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-17157502
17.
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
Neuromuscul Disord
; 17(6): 476-81, 2007 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-17475491
18.
An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.
Eur J Paediatr Neurol
; 11(6): 381-4, 2007 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-17395506
19.
DNA mutation motifs in the genes associated with inherited diseases.
PLoS One
; 12(8): e0182377, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28767725
20.
Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor.
Atherosclerosis
; 250: 9-14, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27175606