Lena Rutkowska

Polish Mother’s Memorial Hospital Research Institute

Poland

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Articles (10)

Year:

2024

Year:

2024

Year:

2024

Year:

2023

Year:

2022

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2022

Year:

2022

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2022

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2021

Year:

2020

Collaborators (7)

Agnieszka Gach

POLAND

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Urszula Wysocka

Polish Mother’s Memorial Hospital Research Institute

POLAND

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Pawel Matusik

Associated Professor

Medical University of Silesia School of Medicine in Katowice

POLAND

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Elżbieta Jakubowska-Pietkiewicz

Medical University of Lodz

POLAND

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Łukasz Kępczyński

assistant professor

Polish Mother’s Memorial Hospital Research Institute

POLAND

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Krzysztof Lewandowski

Polish Mother’s Memorial Hospital Research Institute

POLAND

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Ploski R

POLAND

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Lena Rutkowska

Research Interests

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Articles (10)

Correction: Kucińska et al. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder. <i>Brain Sci.</i> 2024, <i>14</i>, 273

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

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

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

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 Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel

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

Familial Partial Lipodystrophy—Literature Review and Report of a Novel Variant in <i>PPARG</i> Expanding the Spectrum of Disease-Causing Alterations in FPLD3

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

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism

Collaborators (7)

Agnieszka Gach

Urszula Wysocka

Pawel Matusik

Elżbieta Jakubowska-Pietkiewicz

Łukasz Kępczyński

Krzysztof Lewandowski

Ploski R

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