Concepedia
Statistics
Publications
36
Citations
1.1K
H-Index
21
Active since
2011
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.
Top concepts
MedicineHealthVoicePathologyMusicGeneticsMetabolismPhysiologyCell BiologySpeech Perception
Publications per year
2011–2024
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
Rare Diseases, Mendelian Disorder, Genetic Disorder +15
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
Developmental Anomaly, Thumb Hypoplasia, Developmental Biology +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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