-
1
المؤلفون: D. Natera-de Benito, Andrés Nascimento, Juan J. Vílchez, Nuria Muelas, Carlos Ortez, Teresa Jaijo, J. Domínguez-Carral, Jaume Colomer, R. Arteaga
المصدر: NEUROMUSCULAR DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Neuromuscular disorders : NMD
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déuمصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, Roma, Acetylcholine receptor, Neuromuscular junction, Pyridostigmine, Disease, Receptors, Nicotinic, 0302 clinical medicine, CHRNE, Child, Genetics (clinical), Genetics, Facial weakness, Congenital myasthenic syndrome, Middle Aged, Phenotype, Neurology, Mutation (genetic algorithm), Congenital myasthenia, Female, medicine.symptom, Adult, medicine.medical_specialty, Neck muscle weakness, Adolescent, Biology, 03 medical and health sciences, Young Adult, 3,4-Diaminopyridine, medicine, Humans, Family, Allele, Founder mutation, Myasthenic Syndromes, Congenital, Roma gypsies, Genetic heterogeneity, medicine.disease, 030104 developmental biology, Spain, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0dbc0b1a1b7a90461d7028b21e6fad9cTest
https://pubmed.ncbi.nlm.nih.gov/27634344Test -
2
المؤلفون: Marc Jeanpierre, María José Cubillas Rodríguez, Jean Kaplan, Jon Andoni Urtizberea, Montserrat Baiget, Carles de Diego, Pia Gallano, Adriana Lasa, F. Piccolo, Jaume Colomer
المصدر: European Journal of Human Genetics. 6:396-399
مصطلحات موضوعية: Male, Roma, Population, Mutation, Missense, Biology, Muscular Dystrophies, Consanguinity, Sarcoglycans, Genetics, medicine, Humans, Missense mutation, Muscular dystrophy, Allele, education, Genetics (clinical), education.field_of_study, Membrane Glycoproteins, Transition (genetics), Homozygote, Extremities, medicine.disease, Founder Effect, Pedigree, Cytoskeletal Proteins, Sarcoglycan, Genetics, Population, Phenotype, Mutation (genetic algorithm), Female, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba9d270b7af92e15650472d53139198Test
https://doi.org/10.1038/sj.ejhg.5200197Test