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.
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
3.
[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
4.
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
5.
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
6.
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
7.
The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.
BMC Med Genomics
; 12(1): 111, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31337399
8.
A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.
Mol Cytogenet
; 8: 57, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26236398
9.
Genome-wide screening of DNA copy number alterations in cervical carcinoma patients with CGH+SNP microarrays and HPV-FISH.
Int J Clin Exp Pathol
; 7(8): 5071-82, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25197380
10.
Genome-wide screening of cytogenetic abnormalities in multiple myeloma patients using array-CGH technique: a Czech multicenter experience.
Biomed Res Int
; 2014: 209670, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24987674