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1
المؤلفون: M. Bengoa Caamaño, J M Pardal-Fernandez, S. Álvarez, M C Carrascosa-Romero, C. de Cabo, M.C. Medina-Monzón
المصدر: Neuromuscular Disorders. 28:881-884
مصطلحات موضوعية: Male, 0301 basic medicine, Bioinformatics, Compound heterozygosity, Genetic analysis, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Gene, Genetics (clinical), Myasthenic Syndromes, Congenital, Muscle Weakness, Symporters, business.industry, Infant, Newborn, Congenital myasthenic syndrome, medicine.disease, Choline transporter, Phenotype, 030104 developmental biology, Neurology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), New mutation, Neurology (clinical), Differential diagnosis, Respiratory Insufficiency, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c3cd92b125b1a458d7b30f02ec35eaTest
https://doi.org/10.1016/j.nmd.2018.06.020Test -
2
المؤلفون: Steve Laval, L.V.B. Anderson, Straub, LM Cree, Faye Haldane, Hanns Lochmüller, M Poppe, Ilka Wappler, K. Bushby, Heiko Peters
المصدر: Neuromuscular Disorders. 14:561-625
مصطلحات موضوعية: Caveolin 3, Transmembrane domain, Neurology, business.industry, Pediatrics, Perinatology and Child Health, New mutation, Percussion, Medicine, Neurology (clinical), business, Genetics (clinical), Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d567686cdbd9ec920293e44f677b61beTest
https://doi.org/10.1016/s0960-8966Test(04)00138-5 -
3
المؤلفون: J. Joglar-Santos, C. Navarro Fernández-Balbuena, Patricia Blanco-Arias, C. Concheiro-Álvarez, B. San Millan, Julio Pardo, María-Jesús Sobrido, Monica Guijarro, M. Arias-Gómez, A. Carracedo Álvarez
المصدر: Neuromuscular Disorders. 21:688-689
مصطلحات موضوعية: Genetics, Tooth disease, Neurology, Pediatrics, Perinatology and Child Health, New mutation, Neurology (clinical), Biology, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a96b234a058a4e9cc8f665dc830a8ef0Test
https://doi.org/10.1016/j.nmd.2011.06.917Test -
4
المؤلفون: Angela Abicht, Sean Wallace, Kristin Ørstavik, T. Torbergsen, Magnhild Rasmussen
المصدر: Neuromuscular Disorders. 23:808
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, CLCN1, biology, business.industry, medicine.disease, Myotonia, Myotonic dystrophy, Surgery, body regions, Masseter muscle, Neurology, Paramyotonia congenita, Internal medicine, Pediatrics, Perinatology and Child Health, New mutation, medicine, Paralysis, biology.protein, Cardiology, Neurology (clinical), Hyperkalemic periodic paralysis, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::13f4bc74f4ecec1a5a00dd75ac0739ddTest
https://doi.org/10.1016/j.nmd.2013.06.593Test -
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المؤلفون: C.P. Costa, I. Fineza
المصدر: Neuromuscular Disorders. 21:687
مصطلحات موضوعية: Tooth disease, Neurology, business.industry, Mitofusin 2 Gene, Pediatrics, Perinatology and Child Health, New mutation, Medicine, Neurology (clinical), Presentation (obstetrics), business, Bioinformatics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0e6bcda035ad67856583160b730a2a7bTest
https://doi.org/10.1016/j.nmd.2011.06.913Test