Detalhe da pesquisa
1.
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.
J Hum Genet
; 67(4): 209-214, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34819662
2.
Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.
Epilepsy Behav
; 128: 108564, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065395
3.
Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.
Neurogenetics
; 21(4): 269-278, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32564198
4.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cent Eur J Public Health
; 27(2): 153-159, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31241292
5.
Malignant hyperthermia in Czechia and Slovakia.
Br J Anaesth
; 129(2): e41-e43, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718563
6.
Familial hemophagocytic lymphohistiocytosis: from autopsy to prenatal diagnosis. Report of a case.
Cesk Patol
; 53(1): 29-34, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28248119
7.
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Graefes Arch Clin Exp Ophthalmol
; 254(9): 1833-9, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27113771
8.
[First experiences with preimplantation genetic screening of chromosomal aberrations using oligonucleotide-based array comparative genomic hybridization]. / První zkusenosti s preimplantacním genetickým screeningem chromozomových abnormalit pomocí komparativní genomové hybridizace na oligonukleotidových DNA mikrocipech.
Cas Lek Cesk
; 154(3): 127-31, 2015.
Artigo
em Cs
| MEDLINE | ID: mdl-26311028
9.
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
Orphanet J Rare Dis
; 19(1): 41, 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38321498
10.
Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy.
J Assist Reprod Genet
; 30(3): 391-405, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23318982
11.
A unique case of Bloom syndrome with a combination of genetic hits: A lesson from triobased exome sequencing: A case report.
Mol Med Rep
; 27(5)2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37052241
12.
Clinical characteristics and mutational analysis of the RyR2 gene in seven Czech families with catecholaminergic polymorphic ventricular tachycardia.
Pacing Clin Electrophysiol
; 35(7): 798-803, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22519458
13.
Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.
J Electrocardiol
; 45(6): 746-51, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22727609
14.
Sperm meiotic segregation, aneuploidy and high risk of delivering an affected offspring in carriers of non-Robertsonian translocation t(13;15).
J Assist Reprod Genet
; 29(7): 693-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22527900
15.
[Pertussis in a 4-month-old infant with unrecognized cystic fibrosis]. / Pertusse u kojence s nepoznanou cystickou fibrozou.
Klin Mikrobiol Infekc Lek
; 18(6): 196-7, 2012 Dec.
Artigo
em Cs
| MEDLINE | ID: mdl-23386510
16.
Mutation analysis ion channel genes ventricular fibrillation survivors with coronary artery disease.
Pacing Clin Electrophysiol
; 34(6): 742-9, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21410720
17.
Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.
Front Genet
; 12: 750110, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34777475
18.
Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under ß-adrenergic stimulation.
Sci Rep
; 11(1): 3573, 2021 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33574382
19.
Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report.
J Assist Reprod Genet
; 27(11): 649-55, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20700760
20.
Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.
Mol Med Rep
; 20(1): 505-512, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31180560