Detalhe da pesquisa
1.
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.
Reprod Biol Endocrinol
; 18(1): 8, 2020 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996231
2.
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
3.
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
4.
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
5.
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
6.
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Arch Med Sci
; 18(2): 353-364, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35316923
7.
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
8.
A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.
Int J Environ Res Public Health
; 18(13)2021 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281122
9.
Association between idiopathic recurrent pregnancy loss and genetic polymorphisms in cytokine and matrix metalloproteinase genes.
Ginekol Pol
; 2021 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33914308
10.
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
11.
Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease.
Mol Cell Endocrinol
; 517: 110968, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32763379