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المؤلفون: Sofia Leka-Emiri, Adamantios Katerelos, Konstantinos A. Voudris, Artemis Doulgeraki, Emmanouil Manolakos, Anastasia Korona, Ioannis Papoulidis, Sotiria Mastroyanni, Athina Ververi, Stella Mouskou, Georgios Vartzelis
المصدر: Molecular Syndromology. 12:194-200
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, biology, business.industry, medicine.disease, Hypotonia, Epilepsy, Spermine synthase, Intellectual disability, Genetics, medicine, biology.protein, Missense mutation, medicine.symptom, business, Kyphoscoliosis, Gene, Genetics (clinical), Snyder-Robinson syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a7b594aa4c2171b710c2960dd9fd05afTest
https://doi.org/10.1159/000514122Test -
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المؤلفون: Manju A. Kurian, Dora Steel, Francesco Muntoni, Sniya Sudhakar, Richard H Scott, Lucinda Carr, Kshitij Mankad, Alison Male, Tarishi Nemani, Marios Kaliakatsos, Athina Ververi, Spas Getov, Mary M. Reilly, Pinki Munot, Catherine DeVile
المصدر: Journal of the Peripheral Nervous System. 25:117-124
مصطلحات موضوعية: Adult, Male, Nervous system, Pediatrics, medicine.medical_specialty, Sensory axonal neuropathy, Kinesins, Primary Dysautonomias, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Atrophy, Central Nervous System Diseases, medicine, Humans, Spasticity, Child, Retrospective Studies, Dystonia, Spastic Paraplegia, Hereditary, business.industry, General Neuroscience, Infant, Peripheral Nervous System Diseases, Dysautonomia, medicine.disease, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Peripheral nervous system, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c80a3a29fdcf4ef73726251090fa2a5Test
https://doi.org/10.1111/jns.12368Test -
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المؤلفون: A. Ververi, Eletherios Kontopoulos, Nikolaos Kozeis, Dimitrios I. Zafeiriou, Ethymia Vargiami, Ioannis Mavromatis, Ioannis G. Tsikoulas
المصدر: Scopus-Elsevier
مصطلحات موضوعية: medicine.medical_specialty, Periventricular leukomalacia, Visual acuity, genetic structures, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Audiology, medicine.disease, nervous system diseases, Cerebral palsy, Epilepsy, Ophthalmology, Pediatrics, Perinatology and Child Health, Spastic, medicine, Neurology (clinical), medicine.symptom, Evoked potential, business, Spastic tetraplegia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f6e9bee1027dc8aa128dc93e25094ccTest
https://doi.org/10.1055/s-0035-1557489Test -
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المؤلفون: Vassiliki Papadopoulou, Dimitrios Tryfonas, A. Ververi, Dimitrios I. Zafeiriou, E. Vargiami
المصدر: Journal of autism and developmental disorders. 42(7)
مصطلحات موضوعية: Cross-Cultural Comparison, Male, Pediatrics, medicine.medical_specialty, Cross-sectional study, Comorbidity, Deafness, Epilepsy, Intellectual Disability, Intellectual disability, Developmental and Educational Psychology, medicine, Humans, Megalencephaly, Genetic Testing, Child, Genetic testing, Retrospective Studies, medicine.diagnostic_test, Greece, business.industry, Macrocephaly, Infant, medicine.disease, Cross-Sectional Studies, Phenotype, Child Development Disorders, Pervasive, Child, Preschool, Autism, Female, medicine.symptom, business, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3087f1adaaf6a8a828d455bc4b96926Test
https://pubmed.ncbi.nlm.nih.gov/22146932Test