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: Polona Zaletel Benda, Bor Vratanar, Goran Petrovski, Ana Uršula Gavrić, Katja Matović, Ana Gornik, Katarina Vergot, Anila Lumi, Xhevat Lumi

المصدر: Journal of Clinical Medicine, Vol 9, Iss 10, p 3251 (2020)

مصطلحات موضوعية: rhegmatogenous retinal detachment, pars plana vitrectomy, visual outcome, discontinuity of ellipsoid zone, optical coherence tomography, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/9/10/3251; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/8cdcf86470e94cd69b24193f2305b021

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: Matej Podbregar, Marta Znidarsic Erzen, Štefan Grosek, Martina Jelic, Ana Gornik

المصدر: Signa vitae : journal for intesive care and emergency medicine
Volume 9
Issue 2

مصطلحات موضوعية: Mechanical ventilation, bronchiolitis, near-infrared spectroscopy, fractional tissue oxygen extraction (FTOE), regional oxygen saturation (rStO2), business.industry, medicine.medical_treatment, Skeletal muscle, Oxygenation, Critical Care and Intensive Care Medicine, medicine.disease, Intensive care unit, law.invention, Tissue oxygenation, medicine.anatomical_structure, Bronchiolitis, law, Liver tissue, Anesthesia, Emergency Medicine, Medicine, Tissue oxygen, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00b4e72872b8e2b793261a9bed82056e
https://hrcak.srce.hr/134211