Detalhe da pesquisa
1.
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
Hum Genet
; 141(3-4): 697-707, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34839402
2.
Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children.
Bratisl Lek Listy
; 123(8): 568-572, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35852507
3.
Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes.
Int J Mol Sci
; 21(22)2020 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33207777
4.
Detection of mitochondrial haplogroups in a small avar-slavic population from the eigth-ninth century AD.
Am J Phys Anthropol
; 165(3): 536-553, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29345305
5.
The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.
Gen Physiol Biophys
; 36(2): 205-210, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28150585
6.
Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase.
Gen Physiol Biophys
; 36(4): 361-371, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653649
7.
Novel SCN1A variants in Dravet syndrome and evaluating a wide approach of patient selection.
Gen Physiol Biophys
; 35(3): 333-42, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27045673
8.
Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.
Ann Hum Genet
; 78(3): 155-64, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24575791
9.
[Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report]. / A CYP1B1 gén E387K (1159G>A) homozigóta mutációja primer congenitalis glaucomában szenvedo roma gyermekben.
Orv Hetil
; 155(33): 1325-8, 2014 Aug 17.
Artigo
em Húngaro
| MEDLINE | ID: mdl-25109919
10.
Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.
Ann Hum Genet
; 77(5): 364-79, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23758643
11.
Upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs.
Mol Cell Probes
; 25(4): 182-5, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21550396
12.
Development of high-resolution melting (HRM) analysis for population studies of Fascioloides magna (Trematoda: Fasciolidae), the giant liver fluke of ruminants.
Parasitol Res
; 108(1): 201-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20967463
13.
Study of the effect of DNA polymorphisms in the mannose-binding lectin gene (MBL2) on disease severity in Slovak cystic fibrosis patients.
Gen Physiol Biophys
; 30(4): 373-8, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22131319
14.
Mutation analysis of PMP22 in Slovak patients with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Gen Physiol Biophys
; 30(4): 379-88, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22131320
15.
Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.
Epilepsy Res
; 176: 106699, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229227
16.
Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.
J Clin Med
; 10(17)2021 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34501382
17.
High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism.
Anal Biochem
; 398(1): 126-8, 2010 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19903450
18.
Oral in vivo bactofection in dextran sulfate sodium treated female Wistar rats.
Folia Biol (Krakow)
; 58(3-4): 171-6, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20968181
19.
Alkaptonuria: Current Perspectives.
Appl Clin Genet
; 13: 37-47, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32158253
20.
A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.
Sci Rep
; 10(1): 10288, 2020 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581296