Concepedia

Maria Sobol

MS

36

Publications

1.1K

Citations

21

H-Index

2011

Active since

Affiliations

Medical University of Warsaw(Current)

Science for Life Laboratory

Uppsala University

Karolinska Institutet

Taras Shevchenko National University of Kyiv

Maria Sobol is an author at Medical University of Warsaw specializing in medicine, health sciences, and pathology.

ORCID

Top concepts

Publications per year

2011–2024

36

Publications

36

Welander Distal Myopathy Caused by an Ancient Founder Mutation in<i>TIA1</i>Associated with Perturbed Splicing

Joakim Klar, Maria Sobol, Atle Melberg et al. · Human Mutation · 2013 · 105 citations

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Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia

Anne-Sophie Fröjmark, Jens Schuster, Maria Sobol et al. · The American Journal of Human Genetics · 2011 · 77 citations · Full text

, , +5

Vitamin D Effects on Selected Anti-Inflammatory and Pro-Inflammatory Markers of Obesity-Related Chronic Inflammation

Maria Krajewska, Ewelina Witkowska–Sędek, Małgorzata Rumińska et al. · Frontiers in Endocrinology · 2022 · 77 citations · Full text

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

Maria Sobol, Joakim Klar, Loora Laan et al. · Molecular Neurobiology · 2019 · 57 citations · Full text

Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment

Jens Schuster, Loora Laan, Joakim Klar et al. · Neurobiology of Disease · 2019 · 49 citations · Full text

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