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المؤلفون: Ivo Božović, Ivana Basta, Ana Ćosić, Aleksa Palibrk, Ivana Kezić, Vukan Ivanović, Jelena Lazović, Stojan Perić
المصدر: Medicinska istrazivanja. 56:31-35
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5dc86a9421d2480b5848c403518e3c20Test
https://doi.org/10.5937/medi55-40874Test -
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المؤلفون: Stojan Perić, Vladana Marković, Ayşe Candayan, Els De Vriendt, Nikola Momčilović, Andrija Savić, Nataša Dragašević-Mišković, Marina Svetel, Zorica Stević, Ivo Božović, Šarlota Mesaroš, Jelena Drulović, Ivana Basta, Igor Petrović, Olivera Tamaš, Milija Mijajlović, Ivana Novaković, Dragoslav Sokić, Albena Jordanova
المصدر: Cells; Volume 11; Issue 18; Pages: 2804
Cellsمصطلحات موضوعية: Spastin, DNA Copy Number Variations, Spastic Paraplegia, Hereditary, Kinesins, Membrane Transport Proteins, Proteins, Neural Cell Adhesion Molecule L1, General Medicine, Genetic Heterogeneity, Phenotype, hereditary spastic paraplegia, genetic testing, pure HSP, complicated HSP, Humans, Human medicine, Prospective Studies, Biology, Serbia
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7554198faa8da26227606fb0b437717Test
https://pubmed.ncbi.nlm.nih.gov/36139378Test -
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المؤلفون: Vanja, Radišić, Mirjana, Ždraljević, Stojan, Perić, Branka, Mladenović, Branislav, Ralić, Dejana R, Jovanović, Ivana, Berisavac
المصدر: The Egyptian Journal of Neurology, Psychiatry and Neurosurgery. 58
مصطلحات موضوعية: Psychiatry and Mental health, General Neuroscience, Surgery, Neurology (clinical), Pshychiatric Mental Health
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ec54f5d93e06e7120c0600de79098b3Test
https://doi.org/10.1186/s41983-022-00486-6Test -
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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 -
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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: Jovan Pešović, Stojan Perić, Miloš Brkušanin, Goran Brajušković, Vidosava Rakočević-Stojanović, Dušanka Savić-Pavićević
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 9 (2018)مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Somatic cell, Buccal swab, 030105 genetics & heredity, Biology, Myotonic dystrophy, Instability, Disease course, 03 medical and health sciences, 0302 clinical medicine, repeat interruptions, CTG expansion, Internal medicine, medicine, Genetics, In patient, Genetics (clinical), Original Research, somatic instability, medicine.disease, lcsh:Genetics, myotonic dystrophy 1, Endocrinology, Molecular Medicine, age at onset, 030217 neurology & neurosurgery, DMPK
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da371df27913c05afed3d54995ca0e8Test
http://europepmc.org/articles/PMC6278776Test -
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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: 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