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1دورية أكاديمية
المؤلفون: Florent Marguet, Myriam Vezain, Pascale Marcorelles, Séverine Audebert-Bellanger, Kévin Cassinari, Nathalie Drouot, Pascal Chambon, Bruno J. Gonzalez, Arie Horowitz, Annie Laquerriere, Pascale Saugier-Veber
المصدر: Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-7 (2021)
مصطلحات موضوعية: CCDC88C pathogenic variants, Autosomal recessive inheritance, Foetal hydrocephalus, Neuropathology, Multiple ependymal malformations, Choroid plexus hydrops, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2051-5960Test
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2دورية أكاديمية
المؤلفون: Florent Marguet (9710050), Myriam Vezain (5875442), Pascale Marcorelles (375974), Séverine Audebert-Bellanger (10930066), Kévin Cassinari (10752828), Nathalie Drouot (10930069), Pascal Chambon (8730219), Bruno J. Gonzalez (8925143), Arie Horowitz (10930072), Annie Laquerriere (8078678), Pascale Saugier-Veber (330233)
مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Neuroscience, Immunology, Developmental Biology, Cancer, Infectious Diseases, Biological Sciences not elsewhere classified, CCDC88C pathogenic variants, Autosomal recessive inheritance, Foetal hydrocephalus, Neuropathology, Multiple ependymal malformations, Choroid plexus hydrops, Neural tube defect, Renal agenesis, Diaphragmatic defect, Planar cell polarity
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3دورية أكاديمية
المؤلفون: Pascale Saugier-Veber, Florent Marguet, François Lecoquierre, Homa Adle-Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, Marie Brasseur-Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière
المصدر: Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-12 (2017)
مصطلحات موضوعية: MPDZ pathogenic variants, Foetal hydrocephalus, Neuropathology, Multifocal malformation of the ependyma, Autosomal recessive inheritance, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s40478-017-0438-4Test; https://doaj.org/toc/2051-5960Test
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المؤلفون: Myriam Vezain, Bruno J. Gonzalez, Florent Marguet, Annie Laquerrière, Nathalie Drouot, Arie Horowitz, Pascale Saugier-Veber, Kévin Cassinari, Pascale Marcorelles, Séverine Audebert-Bellanger, Pascal Chambon
المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-7 (2021)مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Choroid plexus hydrops, Case Report, Neuropathology, Diaphragmatic defect, Biology, Pathology and Forensic Medicine, Cellular and Molecular Neuroscience, Fetus, Multiple ependymal malformations, Pregnancy, Foetal hydrocephalus, medicine, Humans, RC346-429, CCDC88C pathogenic variants, Neural tube defect, Microfilament Proteins, Wnt signaling pathway, Neural tube, Intracellular Signaling Peptides and Proteins, Brain, medicine.disease, Planar cell polarity, Autosomal recessive inheritance, Hydrocephalus, Pedigree, Bilateral Renal Agenesis, Fetal Diseases, medicine.anatomical_structure, Renal agenesis, Mutation, Choroid plexus, Female, Neurology. Diseases of the nervous system, Neurology (clinical), Ventriculomegaly
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d273b6f70da243ef1ab5c28a62fe021aTest
http://europepmc.org/articles/PMC8183048Test -
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المؤلفون: Homa Adle-Biassette, François Lecoquierre, Yline Capri, Alice Goldenberg, Annie Laquerrière, M. Brasseur-Daudruy, Valérie Layet, Fabien Guimiot, Sophie Patrier, Marion Gérard, Pascale Saugier-Veber, Sara Cipriani, Florent Marguet, Thierry Frebourg
المصدر: Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-12 (2017)مصطلحات موضوعية: Adult, 0301 basic medicine, Pathology, medicine.medical_specialty, Neuropathology, Ventricular system, Biology, lcsh:RC346-429, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Loss of Function Mutation, Foetal hydrocephalus, Ependyma, medicine, Humans, Family, lcsh:Neurology. Diseases of the nervous system, Medulla, Tight junction, Research, Homozygote, Membrane Proteins, Anatomy, MPDZ pathogenic variants, medicine.disease, Phenotype, Autosomal recessive inheritance, Multifocal malformation of the ependyma, 3. Good health, Hydrocephalus, Fetal Diseases, 030104 developmental biology, medicine.anatomical_structure, Female, Neurology (clinical), Choroid, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a689bcd4dd5e18253a23e42576576acTest
https://doi.org/10.1186/s40478-017-0438-4Test