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المؤلفون: Eleina M. England, Samantha J. Bryen, Sandra T. Cooper, Hacer Durmus, Sunita Bijarnia-Mahay, Volker Straub, Jennifer Duff, Roula Ghaoui, Magdalena Mroczek, Ana Töpf, Daniel G. MacArthur
المصدر: Neuromuscular Disorders. 30:310-314
مصطلحات موضوعية: 0301 basic medicine, Inosine monophosphate, Pathology, medicine.medical_specialty, Weakness, Proximal muscle weakness, business.industry, Purine nucleotide cycle, Compound heterozygosity, Muscle atrophy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery, Genetics (clinical), Muscle contracture
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6027f6673c4b90130d13121d20aae4deTest
https://doi.org/10.1016/j.nmd.2020.02.006Test -
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المؤلفون: Hülya Kayserili, Haluk Topaloglu, Ayaz Aghayev, Zehra Oya Uyguner, Sahin Avci, Hacer Durmus, Zuhal Yapici, Pinar Tekturk, Seher Başaran, Yesim Parman, Umut Altunoglu, Piraye Oflazer-Serdaroglu, B Sevinc Rustemoglu, Gulendam Bagirova, Feza Deymeer, Güven Toksoy, Birsen Karaman
المصدر: Neuromuscular Disorders. 29:601-613
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Turkey, Duchenne muscular dystrophy, Genetic counseling, In silico, Genetic Counseling, Chromosomal translocation, Biology, Carrier testing, medicine.disease_cause, Cohort Studies, Dystrophin, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Multiplex ligation-dependent probe amplification, Child, Genetics (clinical), Genetics, Mutation, High-Throughput Nucleotide Sequencing, Infant, Karyotype, Sequence Analysis, DNA, medicine.disease, Muscular Dystrophy, Duchenne, Phenotype, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::190147c364cb01ee776840e7569ad457Test
https://doi.org/10.1016/j.nmd.2019.03.012Test -
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المؤلفون: Hacer Durmus, Yesim Parman, Volker Straub, Ana Töpf, Magdalena Mroczek
المصدر: Genes
Volume 11
Issue 7
Genes, Vol 11, Iss 716, p 716 (2020)مصطلحات موضوعية: Adult, 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Adolescent, lcsh:QH426-470, plectin, Electromyography, Article, PLEC, 03 medical and health sciences, 0302 clinical medicine, Ptosis, Genetics, medicine, Humans, Repetitive nerve stimulation, Muscular dystrophy, Child, Genetics (clinical), Myasthenic Syndromes, Congenital, medicine.diagnostic_test, business.industry, limb-girdle muscular dystrophy, Homozygote, Facial weakness, Exons, medicine.disease, myasthenia, lcsh:Genetics, Phenotype, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Muscle cramp
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b4f36d8f03d6adf456c1ba436f19ffTest
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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: Bülent Kara, Piraye Serdaroglu-Oflazer, Xin Ming Shen, Yesim Parman-Gulsen, Joan M. Brengman, Coşkun Özdemir, Andrew G. Engel, Feza Deymeer, Hacer Durmus
المصدر: Neuromuscular Disorders. 28:315-322
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Pathology, Adolescent, Neuromuscular Junction, Muscle Proteins, Disease, Gastroenterology, Article, Neuromuscular junction, Young Adult, 03 medical and health sciences, 0302 clinical medicine, health services administration, Internal medicine, COLQ, medicine, Humans, CHRNE, Receptors, Cholinergic, health care economics and organizations, Genetics (clinical), Retrospective Studies, Acetylcholine receptor, Myasthenic Syndromes, Congenital, biology, business.industry, Muscle weakness, Prognosis, Choline acetyltransferase, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pyridostigmine, Mutation, Pediatrics, Perinatology and Child Health, Acetylcholinesterase, biology.protein, Female, Collagen, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c8a17c575429d766f1cd587ba6a605aTest
https://doi.org/10.1016/j.nmd.2017.11.013Test -
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المؤلفون: Yesim Parman, Arman Çakar, Gulshan Yunisova, Ayse Candayan, A. Nazli Basak, Esra Battaloglu, Hacer Durmus
المصدر: Neurogenetics. 21(1)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Turkey, Mutation, Missense, Biology, Compound heterozygosity, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Iron-Binding Proteins, Genetics, medicine, Missense mutation, Humans, Family, Gene, Genetics (clinical), Homozygote, Human genetics, nervous system diseases, Pedigree, 030104 developmental biology, Phenotype, Mutation (genetic algorithm), Frataxin, biology.protein, Female, medicine.symptom, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::030ae525e1f6e06ec13f92250de1d7e1Test
https://pubmed.ncbi.nlm.nih.gov/31673878Test -
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المؤلفون: Duran Ustek, Zeliha Gormez, Yesim Parman, Özlem Gelişin, Piraye Serdaroglu-Oflazer, Oğuz Öztürk, Can Ebru Bekircan-Kurt, Urs Giger, Guldal Inal-Gultekin, Ersin Tan, Bahar Toptaş-Hekimoğlu, Sadrettin Pence, Bekir Ergüner, Mahmut Şamil Sağıroğlu, Sevim Erdem-Ozdamar, Hulya Yilmaz-Aydogan, Hacer Durmus, Hüseyin Demirci, Feza Deymeer
المساهمون: Nöroloji
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Turkey, Genomics, Biology, medicine.disease_cause, Article, DNA sequencing, Cohort Studies, Young Adult, 03 medical and health sciences, symbols.namesake, medicine, Humans, Missense mutation, Family, Genetic Testing, Geography, Medical, Child, Gene, Genetics (clinical), Aged, Genetics, Sanger sequencing, Mutation, High-Throughput Nucleotide Sequencing, Middle Aged, Pedigree, 030104 developmental biology, Neurology, Myophosphorylase, Pediatrics, Perinatology and Child Health, symbols, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Population study, Female, Neurology (clinical), Neurosciences & Neurology
وصف الملف: text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::835d60d12714bb5066e3546c6b28ed75Test
http://hdl.handle.net/11655/15706Test