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المؤلفون: Jaume Colomer, L. Gonzalez, M. Alarcón, C. Jimenez Mallebrera, Pia Gallano, A. Frongia, Cristina Jou, J. Corbera, D. Natera, Carlos Ortez, María José Cubillas Rodríguez, A. Codina, Andrés Nascimento, D. Itzep
المصدر: Neuromuscular Disorders. 27:S222
مصطلحات موضوعية: Pathology, medicine.medical_specialty, GMPPB gene, business.industry, Congenital myasthenic syndrome, medicine.disease, Neurology, Cataracts, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Neurology (clinical), Cognitive impairment, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4320b4e2b870e318662c15d81140b3e6Test
https://doi.org/10.1016/j.nmd.2017.06.459Test -
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المؤلفون: Rebecca Gooding, Yesim Parman, Luba Kalaydjieva, Jaume Colomer, Andrés Nascimento, Dora Angelicheva, Rosalind H.M. King, J. Conill
المصدر: Neuromuscular Disorders. 16:664-665
مصطلحات موضوعية: Genetics, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, Sh3tc2 gene, In patient, Neurology (clinical), Disease, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9b4816c329407604d95172d66fcaf985Test
https://doi.org/10.1016/j.nmd.2006.05.078Test -
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المؤلفون: Andrés Nascimento, Jaume Colomer, C. Jiménez–Mallabrera, L. Turon, M. Pineda, A. García-Ribes, Juliane Müller, J. Mihaylova, Hanns Lochmüller, Carlos Ortez
المصدر: Neuromuscular Disorders. 18:748
مصطلحات موضوعية: RAPSN, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Cancer research, Medicine, In patient, Neurology (clinical), business, Phenotype, Genetics (clinical), Early onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fc88820f6843a58cad2749258ff65dd3Test
https://doi.org/10.1016/j.nmd.2008.06.085Test -
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المؤلفون: H. Lochmülller, Jaume Colomer, Andrés Nascimento, J. Corbera, V. Cusi, Juliane Müller
المصدر: Neuromuscular Disorders. 17:819
مصطلحات موضوعية: biology, business.industry, Pharmacology, Term (time), Positive response, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), biology.protein, Medicine, Neurology (clinical), business, Genetics (clinical), Cholinesterase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a1bdde5067ef51dbb6c8d0558736ce65Test
https://doi.org/10.1016/j.nmd.2007.06.194Test