المؤلفون: Anja Kovanda, Luca Lovrečić, Gorazd Rudolf, Ivana Babic Bozovic, Helena Jaklič, Lea Leonardis, Borut Peterlin

المصدر: Genes, Vol 14, Iss 12, p 2166 (2023)

مصطلحات موضوعية: optical genome mapping, OGM, facioscapulohumeral muscular dystrophy, FSHD1, FSHD2, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/12/2166; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/7291fe70f8ee4ad7b91db3aec861c61a

المؤلفون: Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl

المصدر: PLoS ONE, Vol 18, Iss 12, p e0294969 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/2bfe9ebcae724374a4b95a045c71fd9d

المؤلفون: Luca Lovrečić, Nina Pereza, Helena Jaklič, Saša Ostojić, Borut Peterlin

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)

مصطلحات موضوعية: aCGH, chromosome aberrations, QF‐PCR, recurrent miscarriage, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/e3a6ff8cfb87495b80de95342a049c9b

المؤلفون: Maja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 3, p 1084 (2021)

مصطلحات موضوعية: gelsolin amyloidosis, Meretoja syndrome, lattice corneal dystrophy, optic neuropathy, GSN, cutis laxa, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/3/1084; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/d8d75b2f377c427099932851715d1170

المؤلفون: Tanja, Višnjar, Aleš, Maver, Karin, Writzl, Ornela, Maloku, Gaber, Bergant, Helena, Jaklič, David, Neubauer, Federico, Fogolari, Nuška, Pečarič Meglič, Borut, Peterlin

المصدر: Neurology. Genetics. 8(3)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::49b8bdb65414d2f1ddb6c4f5ae654372
https://pubmed.ncbi.nlm.nih.gov/35518571

المؤلفون: Maja, Potrč, Marija, Volk, Matteo, de Rosa, Jože, Pižem, Nataša, Teran, Helena, Jaklič, Aleš, Maver, Brigita, Drnovšek-Olup, Michela, Bollati, Katarina, Vogelnik, Alojzija, Hočevar, Ana, Gornik, Vladimir, Pfeifer, Borut, Peterlin, Marko, Hawlina, Ana, Fakin

المصدر: International Journal of Molecular Sciences

مصطلحات موضوعية: Adult, Male, Protein Folding, Fundus Oculi, gelsolin amyloidosis, Glutamic Acid, heart arrhythmia, cutis laxa, macromolecular substances, Meretoja syndrome, Article, Corneal Diseases, lattice corneal dystrophy, Optic Nerve Diseases, Humans, Exome, GSN, Gelsolin, Genetic Association Studies, Aged, Corneal Dystrophies, Hereditary, Family Health, Amyloid Neuropathies, Familial, optical coherence tomography, Lysine, Optic Nerve, Amyloidosis, Middle Aged, optic neuropathy, Phenotype, Mutation, Female, Amyloidosis, Familial, Tomography, Optical Coherence

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::fb428a044bff32f083ec8072769d477e
https://pubmed.ncbi.nlm.nih.gov/33499149

المؤلفون: Jože Pižem, Natasa Teran, Ana Fakin, Matteo de Rosa, Marko Hawlina, Michela Bollati, Ana Gornik, Helena Jaklič, Borut Peterlin, Maja Potrč, Marija Volk, Brigita Drnovsek-Olup, Alojzija Hočevar, Vladimir Pfeifer, Katarina Vogelnik, Aleš Maver

المصدر: International Journal of Molecular Sciences
Volume 22
Issue 3
International Journal of Molecular Sciences, Vol 22, Iss 1084, p 1084 (2021)
International journal of molecular sciences
22 (2021): 1–15. doi:10.3390/ijms22031084
info:cnr-pdr/source/autori:Potrc M.; Volk M.; de Rosa M.; Pizem J.; Teran N.; Jaklic H.; Maver A.; Drnovsek-Olup B.; Bollati M.; Vogelnik K.; Hocevar A.; Gornik A.; Pfeifer V.; Peterlin B.; Hawlina M.; Fakin A./titolo:Clinical and histopathological features of gelsolin amyloidosis associated with a novel gsn variant p.Glu580lys/doi:10.3390%2Fijms22031084/rivista:International journal of molecular sciences (Print)/anno:2021/pagina_da:1/pagina_a:15/intervallo_pagine:1–15/volume:22
International journal of molecular sciences, vol. 22, no. 3, 1084, 2021.

مصطلحات موضوعية: 0301 basic medicine, Proband, Pathology, medicine.medical_specialty, gelsolin, gelsolin amyloidosis, heart arrhythmia, cutis laxa, Corneal dystrophy, Meretoja syndrome, Catalysis, udc:617.7, lcsh:Chemistry, Inorganic Chemistry, lattice corneal dystrophy, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, medicine, Physical and Theoretical Chemistry, GSN, lcsh:QH301-705.5, Molecular Biology, Spectroscopy, Exome sequencing, amyloidosis, Sanger sequencing, optical coherence tomography, business.industry, Amyloidosis, Organic Chemistry, Dystrophy, General Medicine, medicine.disease, optic neuropathy, Computer Science Applications, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, 030221 ophthalmology & optometry, symbols, Lattice corneal dystrophy, gsn, business, Gelsolin

وصف الملف: application/pdf; text/url

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20bf0c7e808fee9bc7bb3f03502cbd97
https://doi.org/10.3390/ijms22031084

المؤلفون: Branko Zorn, Borut Peterlin, Helena Jaklič, Marija Volk

المصدر: Reproductive biomedicine online. 23(1)

مصطلحات موضوعية: Infertility, Male, medicine.medical_specialty, Genotype, Physiology, Biology, Male infertility, Risk Factors, Internal medicine, medicine, Humans, Genetic variability, Allele, Infertility, Male, Glutathione Transferase, Azoospermia, Polymorphism, Genetic, Aryldialkylphosphatase, Obstetrics and Gynecology, medicine.disease, PON1, Genotype frequency, Endocrinology, Reproductive Medicine, Case-Control Studies, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::809f64a96c5ba2529a1ec9805608b674
https://pubmed.ncbi.nlm.nih.gov/21561808