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1
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: 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 -
4
المؤلفون: Feza Deymeer, Piraye Oflazer-Serdaroglu, Yesim Parman, S. Ceylaner, Hacer Durmus
المصدر: Neuromuscular Disorders. 29:S140-S141
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4175cd1990bc31254bc436f17660515aTest
https://doi.org/10.1016/j.nmd.2019.06.367Test -
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المؤلفون: Arman Çakar, Hacer Durmus, Yesim Parman
المصدر: Neuromuscular Disorders. 30:S75
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b05e736af607a61df0ab0f90a66b6751Test
https://doi.org/10.1016/j.nmd.2020.08.101Test -
6
المؤلفون: Alejandro Lucía, Gabriele Siciliano, Nicol C. Voermans, Rosaline Quinlivan, P. Laforêt, Ramon Martí, J. Vissing, A. Toscano, Tomàs Pinós, Ximena Ortega, Alfredo Santalla, E. Kuhnle, Hacer Durmus, Olimpia Musumeci, Milick Martin, Renata S Scalco, B. San Milan, Sabrina Sacconi, Andrea Martinuzzi
المصدر: Neuromuscular Disorders. 27:S203-S204
مصطلحات موضوعية: chemistry.chemical_compound, Neurology, Glycogen, chemistry, Preliminary report, business.industry, Pediatrics, Perinatology and Child Health, Physiology, Medicine, Neurology (clinical), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::99cb5aa004e6c971a05d5f10367ae721Test
https://doi.org/10.1016/j.nmd.2017.06.397Test -
7
المؤلفون: Joan M. Brengman, Bülent Kara, Yesim Parman-Gulsen, Piraye Serdaroglu-Oflazer, Xin Ming Shen, Andrew G. Engel, Feza Deymeer, Hacer Durmus, Coşkun Özdemir
المصدر: Neuromuscular Disorders. 28:896
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, Long term follow up, business.industry, Pediatrics, Perinatology and Child Health, MEDLINE, medicine, Neurology (clinical), business, Genetics (clinical), Myasthenic syndromes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1343536967159f03777fa16c18341b9bTest
https://doi.org/10.1016/j.nmd.2018.07.007Test -
8
المؤلفون: Hacer Durmus, Steven M. Sine, Feza Deymeer, Veeramani Preethish-Kumar, A. Yuceyar, Duygu Selcen, Andrew G. Engel, Atchayaram Nalini, Seena Vengalil, S. Shen, Joan M. Brengman, Xin-Ming Shen
المصدر: Neuromuscular Disorders. 28:S50
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Genetics (clinical), Myasthenic syndromes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8665af4fcca599a115c96a958264753cTest
https://doi.org/10.1016/j.nmd.2018.06.095Test -
9
المؤلفون: L. Phillips, Katherine Johnson, Ros Quinlivan, H Houlden, Ana Töpf, Feza Deymeer, Yesim Parman, Anthony H.V. Schapira, Andreea Manole, P. Oflazer-Serdaoglu, J.L. Holton, A. Gardiner, Jasper M. Morrow, Volker Straub, Renata S Scalco, Hacer Durmus
المصدر: Neuromuscular Disorders. 27:S144
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Metabolic myopathy, Muscular dystrophy, medicine.disease, business, Genetics (clinical), Clinical neurology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::38105c383dd774505f1ff9138a20731aTest
https://doi.org/10.1016/j.nmd.2017.06.188Test -
10
المؤلفون: Ana Töpf, Hacer Durmus, Katherine Johnson, Volker Straub, S. Omidi, Jonathan Baets, L. Phillips, Tiziana Mongini, P. De Jonghe, W. De Ridder, T Deconinck, Monkol Lek, Daniel G. MacArthur, Anna Lusakowska, Shahriar Nafissi, Marta Bertoli, Vidosava Rakocevic Stojanovic, Stojan Peric
المصدر: Neuromuscular Disorders. 27:S41
مصطلحات موضوعية: Limb girdle weakness, Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Genetics (clinical), Large cohort
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a14af91c2b0952f88874f5a764b893bcTest
https://doi.org/10.1016/s0960-8966Test(17)30338-3