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1دورية أكاديمية
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
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2دورية أكاديمية
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)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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3دورية أكاديمية
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
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4دورية أكاديمية
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
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5
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 -
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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
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7
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
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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