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المؤلفون: Gabrielle Rudolf, Patrick Van Bogaert, Anne-Sophie Tilmant, Sanda Giurgea, Claudine Sculier, Philippe Paquier, Gaetan Lesca, Xavier De Tiège
المساهمون: Université libre de Bruxelles (ULB), Clinique Tivoli Ducos [Bordeaux], Vrije Universiteit Brussel (VUB), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), univOAK, Archive ouverte, Linguistics and Literary Studies, Centre for Linguistics
المصدر: Epileptic disorders
Epileptic Disorders
Epileptic Disorders, 2017, 19 (3), pp.345-350. ⟨10.1684/epd.2017.0931⟩
Epileptic disorders, 19 (3مصطلحات موضوعية: Male, medicine.medical_specialty, Epilepsy, Frontal Lobe, Csws, [SDV.GEN] Life Sciences [q-bio]/Genetics, Audiology, Electroencephalography, Apraxia, Receptors, N-Methyl-D-Aspartate, GRIN2A, language disorder, Epilepsy, Functional neuroimaging, Neurologie, medicine, Humans, Ictal, Language disorder, opercular syndrome, epileptic encephalopathy, language disorder, GRIN2A, CSWS, speech apraxia, Child, Grin2a, [SDV.GEN]Life Sciences [q-bio]/Genetics, biology, medicine.diagnostic_test, business.industry, CSWS, Brain, Cognition, General Medicine, opercular syndrome, medicine.disease, epileptic encephalopathy, Neurology, biology.protein, Neurology (clinical), Human medicine, business, speech apraxia
وصف الملف: pdf; 1 full-text file(s): application/pdf
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المؤلفون: Elisa Leão-Teles, Memnune Yuksel-Apak, M. Foulon, Jaak Jaeken, Stefan Mundlos, L. Van Maldergem, Marie T. Greally, William B. Dobyns, Jacqueline Vigneron, Lina Basel-Vanagaite, Sanda Giurgea, E. Seemanova, Hülya Kayserili
المصدر: Neurology. 71:1602-1608
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Systemic disease, Glycosylation, Adolescent, Cutis Laxa, Congenital Abnormalities, Young Adult, Dysgenesis, chemistry.chemical_compound, Dandy–Walker syndrome, Internal medicine, Humans, Medicine, Longitudinal Studies, Child, chemistry.chemical_classification, business.industry, Isoelectric focusing, Infant, Newborn, Brain, Electrophoresis, Capillary, Infant, medicine.disease, Magnetic Resonance Imaging, carbohydrates (lipids), Endocrinology, chemistry, Transferrin, Child, Preschool, Female, lipids (amino acids, peptides, and proteins), Neurology (clinical), Isoelectric Focusing, Dandy-Walker Syndrome, business, Immunostaining, Cutis laxa
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d7f653944e1003e3cad0d2d54044ce
https://doi.org/10.1212/01.wnl.0000327822.52212.c7 -
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المؤلفون: Uwe Kornak, Wahid Agab, Marie T. Greally, Kasim Ardati, Sanda Giurgea, Lionel Van Maldergem, Neale N. Kalis
المصدر: American journal of medical genetics. Part A. (5)
مصطلحات موضوعية: Male, medicine.medical_specialty, Biopsy, DNA Mutational Analysis, Cutis Laxa, Diagnosis, Differential, Young Adult, Genetics, medicine, Humans, Child, Genetics (clinical), Skin, business.industry, Facies, medicine.disease, Dermatology, Proton-Translocating ATPases, Phenotype, Ehlers–Danlos syndrome, Mutation, Ehlers-Danlos Syndrome, Female, Skin lesion, business, Cutis laxa
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المؤلفون: Patrick Van Bogaert, Corinne Liesnard, Sanda Giurgea, Denis Verheulpen, Philippe David, Pascale Ribaı̈, Georges Rodesch
المصدر: European Journal of Paediatric Neurology. 7:73-75
مصطلحات موضوعية: Male, Middle Cerebral Artery, Pathology, medicine.medical_specialty, Remission, Spontaneous, Cerebral arteries, Constriction, Pathologic, Polymerase Chain Reaction, Magnetic resonance angiography, Cerebrospinal fluid, Seizures, Aphasia, Enterovirus Infections, Humans, Medicine, Pleocytosis, medicine.diagnostic_test, business.industry, Infant, General Medicine, medicine.disease, Radiography, Stenosis, medicine.anatomical_structure, Ischemic Attack, Transient, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), medicine.symptom, business, Magnetic Resonance Angiography, Artery
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المؤلفون: E. Reynders, Dirk Lefeber, Birgit Budde, Marie T. Greally, Anna Rajab, Eva Seemanova, Memmune Yuksel-Apak, Gert Matthijs, Elisa Leão-Teles, Eva Morava, Laura Vilarinho, William B. Dobyns, Lina Basel-Vanagaite, Jeroen van Reeuwijk, Arti Nanda, Marc Larregue, Lionel Van Maldergem, Zsolt Urban, Ron A. Wevers, Jacqueline Vigneron, Han G. Brunner, Dulce Quelhas, Hans van Bokhoven, Sanda Giurgea, Wim Annaert, Martina Simandlova, Stefan Mundlos, Peter Nürnberg, Aikaterini Dimopoulou, Mustafa A. Salih, François Foulquier, Hülya Kayserili, Bjoern Fischer, Stephanie Gruenewald, Uwe Kornak
المصدر: Nature Genetics, 40, 1, pp. 32-4
Nature Genetics, 40, 32-4مصطلحات موضوعية: Male, Glycosylation, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Golgi Apparatus, Biology, Neuroinformatics [DCN 3], medicine.disease_cause, Gerodermia osteodysplastica, Cutis Laxa, Abnormal glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, symbols.namesake, Genetics, medicine, Perception and Action [DCN 1], Humans, Mutation, Infant, Golgi apparatus, Glycostation disorders [IGMD 4], medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Proton-Translocating ATPases, Mitochondrial medicine [IGMD 8], chemistry, Biochemistry, Genetic defects of metabolism [UMCN 5.1], symbols, De Barsy syndrome, Female, Functional Neurogenomics [DCN 2], Wrinkly skin syndrome, Cutis laxa, Immunity, infection and tissue repair [NCMLS 1]
وصف الملف: application/pdf
