14 results on '"Rutkowska, Lena"'
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2. Correction: Kucińska et al. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder. Brain Sci. 2024, 14, 273
3. Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray?:-A Multicenter Retrospective Clinical Cohort Study
4. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder
5. “Apple does not fall far from the tree” – subclinical atherosclerosis in children with familial hypercholesterolemia
6. NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study
7. Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients
8. The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
9. Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel
10. Familial Partial Lipodystrophy—Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3
11. 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
12. New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism
13. “Apple does not fall far from the tree” – subclinical atherosclerosis in children with familial hypercholesterolemia.
14. New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
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