Rudolf G - Search Results

1

Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy.

Kovanda A, Lovrečić L, Rudolf G, Babic Bozovic I, Jaklič H, Leonardis L, Peterlin B. Kovanda A, et al. Among authors: rudolf g. Genes (Basel). 2023 Nov 30;14(12):2166. doi: 10.3390/genes14122166. Genes (Basel). 2023. PMID: 38136988 Free PMC article.

2

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.

Vrečar I, Rudolf G, Peterlin B, Lovrecic L. Vrečar I, et al. Among authors: rudolf g. Mol Cytogenet. 2015 Oct 31;8:83. doi: 10.1186/s13039-015-0187-7. eCollection 2015. Mol Cytogenet. 2015. PMID: 26526591 Free PMC article.

3

Clinical utility of array comparative genomic hybridisation in prenatal setting.

Lovrecic L, Remec ZI, Volk M, Rudolf G, Writzl K, Peterlin B. Lovrecic L, et al. Among authors: rudolf g. BMC Med Genet. 2016 Nov 15;17(1):81. doi: 10.1186/s12881-016-0345-8. BMC Med Genet. 2016. PMID: 27846804 Free PMC article.

4

The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy.

Rudolf G, Lovrečić L, Tul N, Teran N, Peterlin B. Rudolf G, et al. Mol Genet Genomic Med. 2019 Jun;7(6):e658. doi: 10.1002/mgg3.658. Epub 2019 Apr 19. Mol Genet Genomic Med. 2019. PMID: 31004418 Free PMC article.

5

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.

Maver A, Lovrecic L, Volk M, Rudolf G, Writzl K, Blatnik A, Hodzic A, Borut P. Maver A, et al. Among authors: rudolf g. Genet Med. 2016 Nov;18(11):1102-1110. doi: 10.1038/gim.2016.22. Epub 2016 Mar 31. Genet Med. 2016. PMID: 27031083 Free article.

6

Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis.

Lavtar P, Rudolf G, Maver A, Hodžić A, Starčević Čizmarević N, Živković M, Šega Jazbec S, Klemenc Ketiš Z, Kapović M, Dinčić E, Raičević R, Sepčić J, Lovrečić L, Stanković A, Ristić S, Peterlin B. Lavtar P, et al. Among authors: rudolf g. PLoS One. 2018 Jan 11;13(1):e0190601. doi: 10.1371/journal.pone.0190601. eCollection 2018. PLoS One. 2018. PMID: 29324865 Free PMC article.

7

Incidence of the del35G/GJB2 mutation in Croatian newborns with hearing impairment.

Medica I, Rudolf G, Prpić I, Stanojević M, Peterlin B. Medica I, et al. Among authors: rudolf g. Med Sci Monit. 2005 Nov;11(11):CR533-5. Med Sci Monit. 2005. PMID: 16258398

8

The role of TPA I/D and PAI-1 4G/5G polymorphisms in multiple sclerosis.

Zivković M, Starčević Čizmarević N, Lovrečić L, Klupka-Sarić I, Stanković A, Gašparović I, Lavtar P, Dinčić E, Stojković L, Rudolf G, Jazbec SS, Perković O, Sinanović O, Sepčić J, Kapović M, Peterlin B, Ristić S. Zivković M, et al. Among authors: rudolf g. Dis Markers. 2014;2014:362708. doi: 10.1155/2014/362708. Epub 2014 Apr 16. Dis Markers. 2014. PMID: 24825926 Free PMC article.

9

Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.

Blinc A, Maver A, Rudolf G, Tasič J, Pretnar Oblak J, Berden P, Peterlin B. Blinc A, et al. Among authors: rudolf g. Eur J Vasc Endovasc Surg. 2015 Dec;50(6):816-21. doi: 10.1016/j.ejvs.2015.08.003. Epub 2015 Sep 26. Eur J Vasc Endovasc Surg. 2015. PMID: 26409702 Free article. Review.

10

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.

Maver A, Lavtar P, Ristić S, Stopinšek S, Simčič S, Hočevar K, Sepčić J, Drulović J, Pekmezović T, Novaković I, Alenka H, Rudolf G, Šega S, Starčević-Čizmarević N, Palandačić A, Zamolo G, Kapović M, Likar T, Peterlin B. Maver A, et al. Among authors: rudolf g. Sci Rep. 2017 Jun 16;7(1):3715. doi: 10.1038/s41598-017-03536-9. Sci Rep. 2017. PMID: 28623311 Free PMC article.

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