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Journal of Medical Genetics|March 5, 2025
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohortVictoria Lillback, Gaber Bergant, Maria Francesca Di Feo, et al.
Neuromuscular Disorders : NMD|May 31, 2021
MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetranceSlavena Atemin, Tihomir Todorov, Ales Maver, et al.
International Journal of Molecular Sciences|January 27, 2021
Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel <i>GSN</i> Variant p.Glu580LysMaja Potrč, Marija Volk, Matteo de Rosa, et al.
Plos One|April 28, 2015
Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington's DiseaseFederica Cesca, Elisa Bregant, Borut Peterlin, et al.
NPJ Parkinson'S Disease|November 5, 2022
A multicenter study of genetic testing for Parkinson's disease in the clinical settingAnja Kovanda, Valentino Rački, Gaber Bergant, et al.
Plos One|January 12, 2018
Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosisPolona Lavtar, Gorazd Rudolf, Aleš Maver, et al.
Genes|April 28, 2023
The Expanding Phenotypical Spectrum of <i>WARS2</i>-Related Disorder: Four Novel Cases with a Common Recurrent VariantMartje G Pauly, G Christoph Korenke, Sokhna Haissatou Diaw, et al.
Genes|February 26, 2025
Maternal and Parent-of-Origin Gene-Environment Effects on the Etiology of Orofacial CleftingNikola Rasevic, Joseph Bastasic, Michele Rubini, et al.
Disease Markers|May 15, 2014
The role of TPA I/D and PAI-1 4G/5G polymorphisms in multiple sclerosisMaja Zivković, Nada Starčević Čizmarević, Luca Lovrečić, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early DemiseKarin Writzl, Ales Maver, Lidija Kovačič, et al.
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