-
1
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 -
2
المؤلفون: Encarna Guillén-Navarro, Rosalind H.M. King, Rebecca Gooding, Dora Angelicheva, Andrés Nascimento, Jaume Colomer, Luba Kalaydjieva, Yesim Parman, Joan Conill
المصدر: Neuromuscular Disorders. 16:449-453
مصطلحات موضوعية: Adult, Male, Roma, Adolescent, Genotype, Disease, Biology, Charcot-Marie-Tooth Disease, SH3TC2, Humans, Point Mutation, Age of Onset, First-degree relatives, Child, Genetics (clinical), Genetics, Point mutation, Homozygote, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Middle Aged, Founder Effect, Pedigree, Phenotype, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), Age of onset, Polymorphism, Restriction Fragment Length, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cd75b4ec2d9b9ad305c0b48302b2c60Test
https://doi.org/10.1016/j.nmd.2006.05.005Test -
3
المؤلفون: Angela Abicht, L. Turon, Juliane Müller, Andrés Nascimento, D. Pascual-Vaca, Hanns Lochmüller, Jaume Colomer, Carlos Ortez
المصدر: Neuromuscular Disorders. 18:748-749
مصطلحات موضوعية: Genetics, Limb girdle myasthenia, Neurology, RAPSN gene, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Neurology (clinical), Biology, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::656c836cb8714da2293ddfa5870a67a6Test
https://doi.org/10.1016/j.nmd.2008.06.086Test -
4
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 -
5
المؤلفون: Joachim Schessl, M. Roig, J. Corbera, Jaume Colomer, C. Jimenez-Mallabrera, S. Feldkirchner, C. Kubny, Cristina Jou, Andrés Nascimento, Carlos Ortez
المصدر: Neuromuscular Disorders. 21:673
مصطلحات موضوعية: Genetics, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), medicine, Neurology (clinical), Biology, Emery–Dreifuss muscular dystrophy, medicine.disease, Phenotype, Genetics (clinical), FHL1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b5835e9bb16523d7170edd258672e51dTest
https://doi.org/10.1016/j.nmd.2011.06.864Test -
6
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 -
7
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 -
8
المؤلفون: V. Mihaylova, C. Fons, Andrés Nascimento, Juliane Müller, Jaume Colomer, Hanns Lochmüller, C. Jimenez-Mallabrera
المصدر: Neuromuscular Disorders. 17:820
مصطلحات موضوعية: Fetus, Arthrogryposis multiplex congenita, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Escobar syndrome, Neurology (clinical), Biology, Molecular biology, Genetics (clinical), γ subunit, Acetylcholine receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c81642ceadfd9eba095e194cb66839b7Test
https://doi.org/10.1016/j.nmd.2007.06.199Test