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المؤلفون: Esen Kiyan, Hacer Durmus, Zuleyha Bingol, Aylin Pihtili, Yesim Parman
المصدر: Muscle & Nerve. 63:683-689
مصطلحات موضوعية: Male, 0301 basic medicine, Vital capacity, Physiology, Diaphragm, Vital Capacity, Diaphragmatic breathing, Polysomnography, 030105 genetics & heredity, Ambulatory Care Facilities, Hypoxemia, Hypercapnia, 03 medical and health sciences, Cellular and Molecular Neuroscience, FEV1/FVC ratio, 0302 clinical medicine, Physiology (medical), Humans, Medicine, Outpatient clinic, Aged, Retrospective Studies, medicine.diagnostic_test, business.industry, Amyotrophic Lateral Sclerosis, Middle Aged, medicine.disease, Respiratory Function Tests, Obstructive sleep apnea, Pulse oximetry, Anesthesia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cda2c360f31c96a868ac69dfa556585Test
https://doi.org/10.1002/mus.27200Test -
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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: Hasan Demirci, Hasmet Hanagasi, Atilla Uslu, Güven Toksoy, Hacer Durmus, Yesim Parman
المصدر: MusclenerveREFERENCES. 62(6)
مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, Adult, Heterozygote, Physiology, Duchenne muscular dystrophy, Mothers, 030105 genetics & heredity, Neuropsychological Tests, 03 medical and health sciences, Cellular and Molecular Neuroscience, Executive Function, 0302 clinical medicine, Cognition, Spatial Processing, Physiology (medical), Medicine, Humans, Attention, Cognitive Dysfunction, Cognitive impairment, Immediate verbal memory, medicine.diagnostic_test, business.industry, Working memory, Neuropsychology, Neuropsychological test, Middle Aged, medicine.disease, Executive functions, Muscular Dystrophy, Duchenne, Memory, Short-Term, Case-Control Studies, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b518b85efe296824774b6f659729495eTest
https://pubmed.ncbi.nlm.nih.gov/32893363Test