Maria Sobol

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 · 106 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 88 citations · Full text

Medicine, Nutrition, Nutritional Sciences +17

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

Life Sciences, Genetics, Molecular Genetics +11

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 · 59 citations · Full text

Life Sciences, Developmental Biology, Neuroscience +17

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 · 51 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17