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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 -
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المؤلفون: Riitta Herva, von Wendt L, Dubowitz, A.-L. Saukkonen, von Wendt G, Leisti J
المصدر: Neuropediatrics. 18:164-169
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cerebellum, Pathology, Ataxia, Adolescent, Marinesco–Sjögren syndrome, Cataract, Degenerative disease, Muscular Diseases, Cerebellar Diseases, Intellectual Disability, Internal medicine, Humans, Medicine, Child, Myopathy, Muscle biopsy, Juvenile cataract, medicine.diagnostic_test, business.industry, Syndrome, General Medicine, medicine.disease, medicine.anatomical_structure, Endocrinology, Pediatrics, Perinatology and Child Health, Cerebellar atrophy, Neurology (clinical), Atrophy, medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ccb56838cd24cdeeefd0f28cc7e5277
https://doi.org/10.1055/s-2008-1052473