Lena Rutkowska

Lodz, LD, Poland

Last Updated: 09/26/2026

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Found 13 publications

Clinical performance of the urine-based TERT promoter AbsoluteQ Digital PCR for non-invasive detection of bladder cancer.

Clinical performance of the urine-based TERT promoter AbsoluteQ Digital PCR for non-invasive detection of bladder cancer.

Journal: Molecular oncology
Published: October 14, 2025

Clinical reality and challenges with familial hypercholesterolemia patients' management. 2024 results from the Regional Center for Rare Diseases (RCRD) Registry in Poland.

Clinical reality and challenges with familial hypercholesterolemia patients' management. 2024 results from the Regional Center for Rare Diseases (RCRD) Registry in Poland.

Journal: International journal of cardiology
Published: July 03, 2024

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.

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.

Journal: Brain sciences
Published: April 07, 2024

The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.

The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.

Journal: Brain sciences
Published: January 31, 2024

Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? - A Multicenter Retrospective Clinical Cohort Study.

Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microarray? - A Multicenter Retrospective Clinical Cohort Study.

Journal: Fetal diagnosis and therapy
Published: May 26, 2023

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

Journal: Frontiers in endocrinology
Published: January 23, 2023

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.

Journal: Genes
Published: July 18, 2022

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Journal: Genes
Published: May 13, 2022

Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.

Familial Partial Lipodystrophy-Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.

Journal: Diagnostics (Basel, Switzerland)
Published: March 16, 2022

The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.

The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.

Journal: Molecular genetics & genomic medicine
Published: September 28, 2021

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.

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.

Journal: Frontiers in genetics
Published: April 09, 2021

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.

Journal: Archives of medical science : AMS
Published: June 27, 2020
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Last Updated: 09/26/2026