Detalhe da pesquisa
1.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
2.
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.
Neuropediatrics
; 50(1): 57-60, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30517966
3.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
4.
Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy.
J Hum Genet
; 63(7): 803-810, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29636544
5.
Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.
Neuropediatrics
; 49(3): 204-208, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29444535
6.
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.
J Hum Genet
; 62(3): 431-435, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003645
7.
Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.
Ann Hum Genet
; 80(3): 182-6, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26916081
8.
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.
Brain
; 136(Pt 7): e232, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23328402
9.
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Orphanet J Rare Dis
; 13(1): 71, 2018 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29720203
10.
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population.
Genet Test Mol Biomarkers
; 22(2): 127-134, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29425068
11.
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient.
Neuromuscul Disord
; 27(1): 57-60, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27908631
12.
Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.
Genet Test Mol Biomarkers
; 21(10): 613-618, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28872899
13.
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Orphanet J Rare Dis
; 11(1): 118, 2016 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27549087
14.
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.
Int J Pediatr Otorhinolaryngol
; 86: 27-33, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27260575
15.
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
Mol Med Rep
; 8(6): 1779-84, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24126688
16.
KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome.
Pediatr Neurol
; 67: e3-e4, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065823