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1.
Is nuchal translucency of 3.0-3.4 mm an indication for cfDNA testing or microarray? - a multicenter retrospective clinical cohort study.
Fetal Diagn Ther
; 2024 May 30.
Article
in English
| MEDLINE | ID: mdl-38815555
2.
"Apple does not fall far from the tree" - subclinical atherosclerosis in children with familial hypercholesterolemia.
Lipids Health Dis
; 19(1): 169, 2020 Jul 14.
Article
in English
| MEDLINE | ID: mdl-32664969
3.
The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.
Brain Sci
; 14(3)2024 Mar 13.
Article
in English
| MEDLINE | ID: mdl-38539661
4.
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.
Front Endocrinol (Lausanne)
; 14: 1149982, 2023.
Article
in English
| MEDLINE | ID: mdl-37810882
5.
Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.
Diagnostics (Basel)
; 12(5)2022 Apr 30.
Article
in English
| MEDLINE | ID: mdl-35626278
6.
Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.
Genes (Basel)
; 13(6)2022 06 01.
Article
in English
| MEDLINE | ID: mdl-35741760
7.
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.
Article
in English
| MEDLINE | ID: mdl-35748117
8.
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Arch Med Sci
; 18(2): 353-364, 2022.
Article
in English
| MEDLINE | ID: mdl-35316923
9.
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.
Article
in English
| MEDLINE | ID: mdl-36011335
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.
Article
in English
| MEDLINE | ID: mdl-34306033
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