Detalhe da pesquisa
1.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
2.
Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.
Int J Mol Sci
; 24(17)2023 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37685988
3.
Age of natural menopause onset in BRCA1/2 carriers - systematic review and meta-analysis.
Prz Menopauzalny
; 19(4): 171-173, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33488327
4.
[Von Hippel-Lindau syndrome - a case report]. / Von Hippel-Lindau syndrome a case report.
Pol Merkur Lekarski
; 44(263): 248-252, 2018 May 25.
Artigo
em Polonês
| MEDLINE | ID: mdl-29813043
5.
The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.
Brain Sci
; 14(3)2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38539661
6.
To Test or Not to Test: Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures.
J Clin Med
; 12(24)2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137596
7.
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.
Front Endocrinol (Lausanne)
; 14: 1149982, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37810882
8.
Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.
Genes (Basel)
; 13(6)2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741760
9.
The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.
Mol Genet Genomic Med
; 10(8): e1996, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35748117
10.
Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.
Genes (Basel)
; 13(8)2022 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36011335
11.
No evidence for change in expression of TBC1D1 and TBC1D4 genes in cultured human adipocytes stimulated by myokines and adipokines.
Adipocyte
; 10(1): 153-159, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33769190
12.
The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, RB1 and ERBB2 Somatic Mutations.
J Pers Med
; 11(5)2021 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33946229
13.
Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.
Front Genet
; 12: 692978, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34306033
14.
Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.
J Appl Genet
; 57(3): 349-55, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26906906
15.
Concomitance of oncogenic HPV types, CHEK2 gene mutations, and CYP1B1 gene polymorphism as an increased risk factor for malignancy.
Cent European J Urol
; 66(1): 23-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24578981