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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 -
2
المؤلفون: Andrea Righini, Cecilia Parazzini, Giorgio Conte, Claudia Cesaretti, Giana Izzo, Gaetano Bulfamante
المصدر: Neuropediatrics. 46:416-419
مصطلحات موضوعية: Adult, Male, Cerebellum, Prenatal diagnosis, Hindbrain, Nervous System Malformations, Cerebellar Diseases, Pregnancy, Prenatal Diagnosis, medicine, Humans, Fetus, medicine.diagnostic_test, business.industry, Ultrasound, Gestational age, Magnetic resonance imaging, General Medicine, Anatomy, Magnetic Resonance Imaging, Pregnancy Complications, Fetal Diseases, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Cerebellar vermis, Female, Neurology (clinical), business, Cerebellar Vermis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caa4d961ec8e236f06c93230226959af
https://doi.org/10.1055/s-0035-1565274 -
3
المؤلفون: Eugen Boltshauser, Andrea Poretti, Nicole I. Wolf
المساهمون: Pediatric surgery, NCA - Brain mechanisms in health and disease, University of Zurich, Poretti, Andrea
المصدر: Neuropediatrics, 46(6), 359-370. Hippokrates Verlag GmbH
Poretti, A, Wolf, N I & Boltshauser, E 2015, ' Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update ', Neuropediatrics, vol. 46, no. 6, pp. 359-370 . https://doi.org/10.1055/s-0035-1564620مصطلحات موضوعية: Cerebellum, Pathology, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, 610 Medicine & health, Neuroimaging, Diagnosis, Differential, Cerebellar Diseases, medicine, Humans, 2735 Pediatrics, Perinatology and Child Health, Child, Cerebellar hypoplasia, Neuroradiology, business.industry, General Medicine, medicine.disease, Magnetic Resonance Imaging, 2728 Neurology (clinical), Dentate nucleus, medicine.anatomical_structure, 10036 Medical Clinic, Cerebellar cortex, Pediatrics, Perinatology and Child Health, Cerebellar atrophy, Neurology (clinical), Atrophy, medicine.symptom, business, Neuroscience
وصف الملف: PorettiA2.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92538fb5d4dea4cf0fa28567fc07e49f
https://doi.org/10.1055/s-0035-1564620 -
4
المصدر: Neuropediatrics. 50:404-405
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Esotropia, business.industry, Pontocerebellar hypoplasia, Infant, General Medicine, medicine.disease, Magnetic Resonance Imaging, Congenital ataxia, Consanguinity, Receptors, LDL, Neuroimaging, Cerebellar Diseases, Cerebellum, Pediatrics, Perinatology and Child Health, Humans, Muscle Hypotonia, Medicine, Ataxia, Language Development Disorders, Neurology (clinical), Cognition Disorders, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49efa6f1b37e14cfb5aaa513b643dbb4
https://doi.org/10.1055/s-0039-1688953 -
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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: Sahar N. Saleem, Mohamed Momtaz, Maha S. Zaki, Neveen A. Soliman
المصدر: Neuropediatrics. 42:35-38
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Developmental Disabilities, Prenatal diagnosis, Kidney, Cisterna magna, Joubert syndrome, Central nervous system disease, Young Adult, Cerebellar Diseases, Pregnancy, Prenatal Diagnosis, medicine, Humans, Cerebellar disorder, Ultrasonography, Fetus, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Differential diagnosis, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9ab4aae5a8bbdd234a6830af17b825c
https://doi.org/10.1055/s-0031-1275739 -
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المؤلفون: Frances M. Cowan, Mary A. Rutherford, T.A.G.M. Huisman, Daniela Prayer, Eugen Boltshauser, A. J. Du Plessis, Catherine Limperopoulos, E. Del Giudice, Pierre-Yves Jeannet, Andrea Poretti
المساهمون: Poretti, A., Huisman, T. A. G. M., Cowan, F. M., DEL GIUDICE, Ennio, Jeannet, P. Y., Prayer, D., Rutherford, M. A., DU PLESSIS, A. J., Limperopoulos, C., Boltshauser, E., University of Zurich, Poretti, A
المصدر: Neuropediatrics. 40:228-233
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Cerebellum, Adolescent, Central nervous system, 610 Medicine & health, White matter, Neuroimaging, Cerebellar Diseases, Cerebellar hemisphere, medicine, Humans, 2735 Pediatrics, Perinatology and Child Health, Child, Fetus, neuroimaging, business.industry, cerebellar cleft, Infant, General Medicine, Magnetic Resonance Imaging, Surgery, 2728 Neurology (clinical), medicine.anatomical_structure, nervous system, 10036 Medical Clinic, Child, Preschool, Pediatrics, Perinatology and Child Health, Cerebellar hemorrhage, Gestation, Female, Neurology (clinical), Cognition Disorders, business, Dilatation, Pathologic, Follow-Up Studies
وصف الملف: STAMPA; PorettiA,HuismanTA,_2009.pdf - application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0adddef2d00f1e7d15320ef9fd808be
https://doi.org/10.1055/s-0030-1248265 -
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المؤلفون: S. H. Kubat, B. P. Eckhardt, Thierry A.G.M. Huisman
المصدر: Neuropediatrics. 38:160-163
مصطلحات موضوعية: Male, Cerebellum, Adolescent, Central nervous system, Infarction, Cerebellar Diseases, Humans, Medicine, Pathological, Normal cerebellum, business.industry, Cerebrum, General Medicine, Anatomy, medicine.disease, medicine.anatomical_structure, nervous system, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Atrophy, Differential diagnosis, Tomography, X-Ray Computed, business, Sign (mathematics)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba5542b6b799dd4dede6bce1254eb06
https://doi.org/10.1055/s-2007-985909 -
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المؤلفون: Laurence Hubert, S. Romano, Rima Nabbout, Stanislas Lyonnet, Isabelle Desguerre, Francis Brunelle, Arnold Munnich, Nathalie Boddaert, P. de Lonlay, Rémi Salomon, N Bahi-Buisson, D. Seidenwurm, Pascale Sonigo
المصدر: Neuropediatrics. 37:42-45
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Ataxia, Adolescent, Developmental Disabilities, Encephalopathy, Nonsense mutation, Joubert syndrome, Central nervous system disease, Cerebellar Diseases, Humans, Medicine, Abnormalities, Multiple, Child, Radionuclide Imaging, Adaptor Proteins, Signal Transducing, Fourth Ventricle, business.industry, General Medicine, medicine.disease, Magnetic Resonance Imaging, Hypotonia, Adaptor Proteins, Vesicular Transport, medicine.anatomical_structure, Ventricle, Dysplasia, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::533c1dbe00cd28f2074770ebc9a41879
https://doi.org/10.1055/s-2006-923838 -
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المؤلفون: Andreas Hahn, S Gross, J O Steiss, B A Neubauer
المصدر: Neuropediatrics. 36:332-335
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Microcephaly, Nephrotic Syndrome, Adolescent, Late onset, Focal segmental glomerulosclerosis, Atrophy, Cerebellar Diseases, medicine, Humans, Age of Onset, Child, business.industry, Infant, Glomerulonephritis, General Medicine, medicine.disease, Magnetic Resonance Imaging, Surgery, Galloway Mowat syndrome, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Kidney Diseases, Cerebellar atrophy, Neurology (clinical), business, Nephrotic syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce1de233ec69db7d47ff400ee7154b9a
https://doi.org/10.1055/s-2005-872842