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Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2.
Neurol Genet. 2022 Mar 1;8(2):e658. doi: 10.1212/NXG.0000000000000658. eCollection 2022 Apr.
Neurol Genet. 2022.
PMID: 35243002
Free PMC article.
Association between male infertility and genetic variability at the PON1/2 and GSTM1/T1 gene loci.
Volk M, Jaklič H, Zorn B, Peterlin B.
Volk M, et al. Among authors: jaklic h.
Reprod Biomed Online. 2011 Jul;23(1):105-10. doi: 10.1016/j.rbmo.2011.03.021. Epub 2011 Mar 26.
Reprod Biomed Online. 2011.
PMID: 21561808
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Combination of QF-PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage.
Lovrečić L, Pereza N, Jaklič H, Ostojić S, Peterlin B.
Lovrečić L, et al. Among authors: jaklic h.
Mol Genet Genomic Med. 2019 Dec;7(12):e980. doi: 10.1002/mgg3.980. Epub 2019 Oct 23.
Mol Genet Genomic Med. 2019.
PMID: 31643138
Free PMC article.
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Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.
Potrč M, Volk M, de Rosa M, Pižem J, Teran N, Jaklič H, Maver A, Drnovšek-Olup B, Bollati M, Vogelnik K, Hočevar A, Gornik A, Pfeifer V, Peterlin B, Hawlina M, Fakin A.
Potrč M, et al. Among authors: jaklic h.
Int J Mol Sci. 2021 Jan 22;22(3):1084. doi: 10.3390/ijms22031084.
Int J Mol Sci. 2021.
PMID: 33499149
Free PMC article.
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Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss.
Višnjar T, Maver A, Writzl K, Maloku O, Bergant G, Jaklič H, Neubauer D, Fogolari F, Pečarič Meglič N, Peterlin B.
Višnjar T, et al. Among authors: jaklic h.
Neurol Genet. 2022 May 3;8(3):e677. doi: 10.1212/NXG.0000000000000677. eCollection 2022 Jun.
Neurol Genet. 2022.
PMID: 35518571
Free PMC article.
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A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study.
Vodnjov N, Toplišek J, Maver A, Čuturilo G, Jaklič H, Teran N, Višnjar T, Škrjanec Pušenjak M, Hodžić A, Miljanović O, Peterlin B, Writzl K.
Vodnjov N, et al. Among authors: jaklic h.
PLoS One. 2023 Dec 5;18(12):e0294969. doi: 10.1371/journal.pone.0294969. eCollection 2023.
PLoS One. 2023.
PMID: 38051749
Free PMC article.
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Preimplantation Genetic Testing within the Public Healthcare System in Slovenia.
Volk M, Writzl K, Veble A, Jaklič H, Teran N, Prosenc B, Štimpfel M, Virant Klun I, Vrtačnik Bokal E, Ban Frangež H, Peterlin B.
Volk M, et al. Among authors: jaklic h.
Balkan J Med Genet. 2024 Mar 12;26(2):5-10. doi: 10.2478/bjmg-2023-0017. eCollection 2023 Dec.
Balkan J Med Genet. 2024.
PMID: 38482262
Free PMC article.
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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: jaklic h.
Genes (Basel). 2023 Nov 30;14(12):2166. doi: 10.3390/genes14122166.
Genes (Basel). 2023.
PMID: 38136988
Free PMC article.
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