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المؤلفون: Jelena, Drulović, Gordana, Tončev, Čongor, Nadj, Dragana, Obradović, Jevto, Eraković, Šarlota, Mesaroš, Mirjana, Čukić, Dejan, Aleksić, Marko, Andabaka, Jovana, Ivanović, Aleksa, Jovanović, Marina, Kostić, Gorica, Marić, Aleksandar, Marković, Vanja, Martinović, Aleksandra, Parojčić, Stojan, Perić, Lorand, Sakalaš, Vesna, Suknjaja, Katarina, Vesić, Sofija, Vojvodić, Tijana, Vuković, Ralph H B, Benedict, Tatjana, Pekmezović
المصدر: Acta clinica Croatica
Volume 61.
Issue 1.مصطلحات موضوعية: Cohort Studies, Multiple Sclerosis, Cognition, Humans, Reproducibility of Results, General Medicine, Neuropsychological Tests, Multipla skleroza, BICAMS, Kognicija, Kognitivno oštećenje, Validacija, Multiple sclerosis, Cognitive impairment, Validation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b09bcae7b3c3aaae7c6041e75cee83aTest
https://doi.org/10.20471/acc.2022.61.01.08Test -
22دورية أكاديمية
المؤلفون: Francesca Caso, Federica Agosta, Stojan Peric, Vidosava Rakočević-Stojanović, Massimiliano Copetti, Vladimir S Kostic, Massimo Filippi
المصدر: PLoS ONE, Vol 9, Iss 8, p e104697 (2014)
العلاقة: http://europepmc.org/articles/PMC4130603?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/cdd2c2cd926a4011b1286556147313c3Test
الإتاحة: https://doi.org/10.1371/journal.pone.0104697Test
https://doaj.org/article/cdd2c2cd926a4011b1286556147313c3Test -
23دورية أكاديمية
المؤلفون: Milija Mijajlovic, Ivo Bozovic, Aleksandra Pavlovic, Vidosava Rakocevic-Stojanovic, Sanja Gluscevic, Amalija Stojanovic, Ivana Basta, Giovanni Meola, Stojan Peric
المصدر: Heliyon, Vol 10, Iss 5, Pp e26856- (2024)
مصطلحات موضوعية: Myotonic dystrophy type 1, Myotonic dystrophy type 2, Transcranial sonography, Substantia nigra, Nucleus raphe, Science (General), Q1-390, Social sciences (General), H1-99
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844024028871Test; https://doaj.org/toc/2405-8440Test
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المؤلفون: Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub
المساهمون: MYO-SEQ Consortium, HUSLAB, HUS Children and Adolescents, Clinicum, Medicum, Claeys, Kristl
المصدر: Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: 0301 basic medicine, targeted exome analysis, Neuromuscular disease, Medizin, Anoctamins, 030105 genetics & heredity, Bioinformatics, 3124 Neurology and psychiatry, DNA sequencing, Article, 03 medical and health sciences, genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, 3123 Gynaecology and paediatrics, Exome Sequencing, Medicine, Humans, Exome, Gene, Genetics (clinical), Exome sequencing, SGCA, RYR1, Genetic heterogeneity, business.industry, Sciences bio-médicales et agricoles, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Glucosyltransferases, Human medicine, business
وصف الملف: 1 full-text file(s): application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157Test
https://repository.uantwerpen.be/docstore/d:irua:4405Test -
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المؤلفون: Katherine, Johnson, Willem, De Ridder, Ana, Töpf, Marta, Bertoli, Lauren, Phillips, Peter, De Jonghe, Jonathan, Baets, Tine, Deconinck, Vidosava, Rakocevic Stojanovic, Stojan, Perić, Hacer, Durmus, Shirin, Jamal-Omidi, Shahriar, Nafissi, Tiziana, Mongini, Anna, Łusakowska, Mark, Busby, James, Miller, Fiona, Norwood, Judith, Hudson, Rita, Barresi, Monkol, Lek, Daniel G, MacArthur, Volker, Straub
المصدر: Journal of Neurology, Neurosurgery, and Psychiatry
مصطلحات موضوعية: Adult, Male, muscular dystrophy, Ubiquitin-Protein Ligases, Middle Aged, PostScript, Magnetic Resonance Imaging, Tripartite Motif Proteins, Muscular Diseases, Muscular Dystrophies, Limb-Girdle, muscle disease, Mutation, Ethnicity, Humans, Female, neuromuscular, Muscle, Skeletal, Transcription Factors, myopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::5cea806501789d91ba89610e58505907Test
https://pubmed.ncbi.nlm.nih.gov/29921608Test -
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المؤلفون: Jovan Pešović, Stojan Perić, Miloš Brkušanin, Goran Brajušković, Vidosava Rakočević-Stojanović, Dušanka Savić-Pavićević
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, age at onset, CTG expansion, DMPK, myotonic dystrophy 1, repeat interruptions, somatic instability
الإتاحة: https://doi.org/10.3389/fgene.2018.00601.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells_pdf/7388363Test -
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المؤلفون: Jovan Pešović, Stojan Perić, Miloš Brkušanin, Goran Brajušković, Vidosava Rakočević-Stojanović, Dušanka Savić-Pavićević
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, age at onset, CTG expansion, DMPK, myotonic dystrophy 1, repeat interruptions, somatic instability
الإتاحة: https://doi.org/10.3389/fgene.2018.00601.s002Test
https://figshare.com/articles/dataset/Table_4_Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells_xlsx/7388366Test -
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المؤلفون: Zoran, Vukojević, Tatjana, Pekmezović, Ana, Nikolić, Stojan, Perić, Ivana, Basta, Ivan, Marjanović, Dragana, Lavrnić
المصدر: Vojnosanitetski pregled. 71(9)
مصطلحات موضوعية: Adult, Male, Diabetic Neuropathies, Surveys and Questionnaires, Neural Conduction, Quality of Life, Health Status Indicators, Humans, Female, Middle Aged, Median Nerve
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::dbb15f25a9cbaaf3ad2621f899c347c0Test
https://pubmed.ncbi.nlm.nih.gov/25282781Test -
30دورية أكاديمية
المؤلفون: Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jorge Alberto Diaz Manera, Celine Dogan, Rasha el Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel van Engelen, Stanislav Vohanka, Hanns Lochmüller
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
مصطلحات موضوعية: Myotonic dystrophy, Registries, Clinical trials, Trial readiness, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0889-0Test; https://doaj.org/toc/1750-1172Test