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1
المؤلفون: Alfons Macaya, Miquel Raspall-Chaure, Ester Cuenca-León, Joan Conill, Susana Redecillas, M. Gratacos, Aintzane Urbizu, M Roig-Quilis
المصدر: Journal of the Neurological Sciences. 295:110-113
مصطلحات موضوعية: Male, medicine.medical_specialty, Aura, Migraine Disorders, DNA Mutational Analysis, Mutation, Missense, Epilepsy, Chorea, Internal medicine, Diseases in Twins, medicine, Humans, Missense mutation, Child, Glucose Transporter Type 1, business.industry, Writer's cramp, Paroxysmal dyskinesia, medicine.disease, Migraine with aura, Endocrinology, Epilepsy, Absence, Neurology, Migraine, Dyskinesia, Dystonic Disorders, Neurology (clinical), medicine.symptom, Diet, Ketogenic, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f27752c4748756cc4ea6a1544c1914cTest
https://doi.org/10.1016/j.jns.2010.05.017Test -
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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
المصدر: Epilepsy Currents. 5:220-222
مصطلحات موضوعية: Adult, Male, Spasm, Pediatrics, medicine.medical_specialty, Adolescent, Neurology department, Age at diagnosis, Epilepsies, Myoclonic, Human physical appearance, Electroencephalography, Behavioral traits, Epilepsy, Status Epilepticus, Angelman syndrome, Diagnosis, medicine, Humans, Child, Molecular Biology, Retrospective Studies, Chromosomes, Human, Pair 15, medicine.diagnostic_test, business.industry, Genetic disorder, Infant, Clinical Science, medicine.disease, Child, Preschool, Anticonvulsants, Female, Neurology (clinical), Angelman Syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da90a2051655fa7394fae389fb9904abTest
https://doi.org/10.1111/j.1535-7511.2005.00069.xTest -
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المؤلفون: Jaume Campistol, Beatriz Chavez, Joan Conill, Susanna Hernández, Marco A. Gudino, Maria Antonia Vilaseca
المصدر: Journal of child neurology. 17(2)
مصطلحات موضوعية: Vitamin, Male, Pediatrics, medicine.medical_specialty, Pathology, Mucopolysaccharidosis, Mucopolysaccharidosis I, West's syndrome, Rickets, Genes, Recessive, 03 medical and health sciences, chemistry.chemical_compound, Iduronidase, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Chromosome Aberrations, Neurologic Examination, S syndrome, business.industry, Vitamin D-dependent rickets, Infant, Electroencephalography, medicine.disease, Hydrocephalus, chemistry, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, Tomography, X-Ray Computed, Spasms, Infantile, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75578988e2763b5819b1dbbdeeac07b1Test
https://pubmed.ncbi.nlm.nih.gov/11952079Test -
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المؤلفون: Joan Conill, Jesús Pujol, Antoni Capdevila, Asunción Avila, Jaime Kulisevsky, Joaquín Balanzó
المصدر: Electroencephalography and clinical neurophysiology. 94(6)
مصطلحات موضوعية: Adult, Liver Cirrhosis, Male, medicine.medical_specialty, Contingent Negative Variation, Electromyography, Electroencephalography, Globus Pallidus, Internal medicine, Basal ganglia, medicine, Humans, Clinical significance, Analysis of Variance, medicine.diagnostic_test, business.industry, General Neuroscience, Magnetic resonance imaging, Middle Aged, Magnetic Resonance Imaging, Contingent negative variation, Globus pallidus, Bereitschaftspotential, Anesthesia, Cardiology, Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b2058c6a819bc9c50252d36f8b6c81Test
https://pubmed.ncbi.nlm.nih.gov/7607096Test -
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المؤلفون: Ramon Navarro, Josep Costa, Itziar Alonso-Colmenero, Eva Sola, Joan Conill
المصدر: Clinical Neurophysiology. 119:S94
مصطلحات موضوعية: medicine.medical_specialty, Decompression, business.industry, Posterior fossa, Sensory Systems, Surgery, Intraoperative evoked potentials, Neurology, Chiari I malformation, Physiology (medical), Anesthesia, medicine, In patient, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::21fa5f5e1d3864b2e03a512704062fd8Test
https://doi.org/10.1016/s1388-2457Test(08)60360-0 -
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