eNauka - pregled

Pregled prema Autor Straub, V

Prikaz rezultata 1 do 4 od 4
GodinaNaslovAutor(i)Tip rezultataMp-kat.
2016A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohortTonf, A; Nikodinovic-Glumac, Jelena; Peric, Stojan Z ; Cassop-Thompson, M; Bertoli, M; Johnson, Katherine; Phillips, L; MacArthur, D; Rakocevic-Stojanovic, Vidosava M; Straub, VKonferencijski rad
Mp kategorija će biti prikazana naknadno.
2020Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)Fatehi, F; Okhovat, AA; Nilipour, Y; Mroczek, M; Straub, V; Topf, A; Palibrk, Aleksa; Peric, Stojan Z ; Rakocevic-Stojanovic, Vidosava M; Najmabadi, H;
Nafissi, S;
Naučni članak
21M21 - Rad u vrhunskom međ. časopisu
2016Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutationsJohnson, Katherine; Bertoli, M; Phillips, L; Toepf, A; Claeys, K; Rakocevic-Stojanovic, Vidosava M; Peric, Stojan Z ; Vissine, J; Hahn, Andreas; Maddison, P;
Akay, E; Bastian, A; Lusakowska, A; Lek, M; Xu, L; MacArthur, D; Straub, V;
Konferencijski rad
Mp kategorija će biti prikazana naknadno.
2017Two novel mutations in the FHL1 gene extending the phenotypic spectrumStrehle, E; Johnson, Katherine; Rakocevic-Stojanovic, Vidosava M; Peric, Stojan Z ; Farrugia, M; Longman, C; Straub, VKonferencijski rad
Mp kategorija će biti prikazana naknadno.