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1
المؤلفون: Cdg Spanish-Consortium, D. Itzep, Daniel Cuadras, Belén Pérez-Dueñas, Luis González Gutiérrez-Solana, Antonio Martinez-Monseny, Mercè Bolasell, Ramón Velázquez-Fragua, Alfons Macaya, Mercedes Serrano
المصدر: Neuropediatrics. 49:408-413
مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Ataxia, Adolescent, 030105 genetics & heredity, Audiology, Severity of Illness Index, Young Adult, 03 medical and health sciences, Dysarthria, Fluency, Congenital Disorders of Glycosylation, 0302 clinical medicine, Neuroimaging, Cerebellar Diseases, Severity of illness, medicine, Humans, Prospective Studies, Young adult, Child, Prospective cohort study, business.industry, Age Factors, General Medicine, Magnetic Resonance Imaging, Phosphotransferases (Phosphomutases), Pediatrics, Perinatology and Child Health, Female, International Cooperative Ataxia Rating Scale, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49b69b69b40a5b464e288ece78c838a
https://doi.org/10.1055/s-0038-1673332 -
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المؤلفون: Maria Dehmel, Gabriele Hahn, Meinolf Suttorp, Sebastian Brenner, Jürgen Dinger, Luisa Mackenroth, Nataliya Di Donato, Heike Schützle, Maja von der Hagen
المصدر: Neuropediatrics. 47(3)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Microcephaly, Pontocerebellar hypoplasia, Hemoglobinuria, Paroxysmal, Hoyeraal-Hreidarsson syndrome, Cell Cycle Proteins, 030105 genetics & heredity, medicine.disease_cause, Dyskeratosis Congenita, 03 medical and health sciences, 0302 clinical medicine, Fatal Outcome, Cerebellar Diseases, Intellectual Disability, medicine, Humans, Bone Marrow Diseases, Mutation, Fetal Growth Retardation, business.industry, Bone marrow failure, Anemia, Aplastic, Infant, Nuclear Proteins, General Medicine, Bone Marrow Failure Disorders, medicine.disease, Magnetic Resonance Imaging, Pediatrics, Perinatology and Child Health, Neurology (clinical), Differential diagnosis, Chromosome breakage, business, 030217 neurology & neurosurgery, Dyskeratosis congenita
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87623ad18601ceb7427ca7d1b70af3e6
https://pubmed.ncbi.nlm.nih.gov/26951492