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1دورية أكاديمية
المؤلفون: Kara Goodkey, Anita Wischmeijer, Laurence Perrin, Adrianne E. S. Watson, Leenah Qureshi, Duccio Maria Cordelli, Francesco Toni, Maria Gnazzo, Francesco Benedicenti, Monique Elmaleh-Bergès, Karen J. Low, Anastassia Voronova
المصدر: BMC Medicine, Vol 22, Iss 1, Pp 1-24 (2024)
مصطلحات موضوعية: Anosmia, Olfactory nerve, Olfactory bulb, Rostral migratory stream, RMS, Neural stem cell, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1741-7015Test
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2دورية أكاديمية
المؤلفون: Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
المصدر: eLife, Vol 5 (2016)
مصطلحات موضوعية: QIL1, MICOS, mitochondrial disease, early-onset fatal mitochondrial encephalopathy, 3-methylglutaconic aciduria, liver disease, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Marie-Cécile Nassogne, Imen Dorboz, Dana Dumitriu, Jean-François Benoist, Agnès Bourillon, Raphaël Helaers, Monique Elmaleh-Bergès, Apolline Imbard, Odile Boespflug-Tanguy, Marie-Françoise Vincent, Emile Van Schaftingen, Joseph P. Dewulf, Manuel Schiff, Alisha Malla, Avner Schlessinger, Ron A. Wevers, Malgorzata Rak, Florence Renaldo, Elsa Wiame
المصدر: Annals of Neurology. 85:385-395
مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Mutation, Chemistry, medicine.disease_cause, medicine.disease, Molecular biology, Reverse transcriptase, 3. Good health, Leukoencephalopathy, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Cerebrospinal fluid, Neurology, symbols, medicine, Missense mutation, Choroid plexus, Neurology (clinical), 030217 neurology & neurosurgery, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f95dd7d5c884b463f765a315b275704dTest
https://doi.org/10.1002/ana.25412Test -
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المؤلفون: Monique Elmaleh-Bergès, Alix Marhic, Thierry Van Den Abbeele, Natacha Teissier, Abdullah Bahakim, Martine François, Rémi Hervochon
المصدر: International journal of pediatric otorhinolaryngology. 139
مصطلحات موضوعية: medicine.medical_specialty, Sensitivity and Specificity, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, 030225 pediatrics, Temporal bone, otorhinolaryngologic diseases, False positive paradox, Medicine, Humans, Medical history, 030223 otorhinolaryngology, Child, Retrospective Studies, Cholesteatoma, Middle Ear, business.industry, Cholesteatoma, Retrospective cohort study, General Medicine, medicine.disease, Predictive value, Magnetic Resonance Imaging, medicine.anatomical_structure, Diffusion Magnetic Resonance Imaging, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Etiology, Middle ear, Radiology, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168f12c083a6ddc99a1be8bb24ba01d4Test
https://pubmed.ncbi.nlm.nih.gov/33771366Test -
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المؤلفون: Flore Rozenberg, Richard Delorme, Pierre Ellul, Odile Boespflug-Tanguy, Vincent Bondet, Yanick J. Crow, Theresa Kwon, Darragh Duffy, Isabelle Melki, Monique Elmaleh-Bergès, Séverine Drunat, Anaël Ayrolles, Florence Renaldo
المساهمون: Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Centre de référence des leucodystrophies et leucoencéphalopathies de cause rare [AP-HP Hôpital Robert-Debré] (LEUKOFRANCE), Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de radiologie pédiatrique [AP-HP Hôpital Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Néphrologie pédiatrique [Hôpital Robert Debré, Paris], Service de Virologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Immunobiologie des Cellules dendritiques, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratory of neurogenetics and neuroinflammation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), MRC Institute of Genetics and Molecular Medicine [Edinburgh] (IGMM), University of Edinburgh-Medical Research Council, Centre de référence des rhumatismes inflammatoires et maladies autoimmunes systémiques rares de l'enfant [Paris] (RAISE), Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP], CHU Necker - Enfants Malades [AP-HP], We acknowledge the contribution of the General Paediatrics, Infectious Disease and Internal Medicine Department, the Child and Adolescent Psychiatry Department, the Child Neurology Department, the Pediatric Nephrology Department and the Genetics Department of Robert Debre Hospital. We thank the patient and his family members for allowing us to report the findings of his case., Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)
المصدر: Schizophrenia Research
Schizophrenia Research, Elsevier, 2020, Online ahead of print, ⟨10.1016/j.schres.2020.05.064⟩
Schizophrenia Research, 2020, Online ahead of print, ⟨10.1016/j.schres.2020.05.064⟩
Ayrolles, A, Ellul, P, Renaldo, F, Boespflug, O, Delorme, R, Drunat, S, Elmaleh-Berges, M, Kwon, T, Rozenberg, F, Bondet, V, Duffy, D, Crow, Y & Melki, I 2020, ' Catatonia in a patient with Aicardi-Goutières syndrome efficiently treated with immunoadsorption ', Schizophrenia Research . https://doi.org/10.1016/j.schres.2020.05.064Testمصطلحات موضوعية: Pathology, medicine.medical_specialty, Catatonia, Alpha interferon, Interstitial lung disease, Aicardi-Goutières syndrome, Nervous System Malformations, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, 0302 clinical medicine, medicine, Humans, Immunoadsorption, Biological Psychiatry, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, Interferon-alpha, medicine.disease, 3. Good health, Psychiatry and Mental health, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Aicardi–Goutières syndrome, [SDV.IMM]Life Sciences [q-bio]/Immunology, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], business, 030217 neurology & neurosurgery
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5690ce06a033f55e05386c5184185d7Test
https://hal-pasteur.archives-ouvertes.fr/pasteur-02900829Test -
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المؤلفون: Georg F. Hoffmann, Chong Ae Kim, David J. Amor, Monique Elmaleh-Bergès, Axel Neu, João Paulo Kitajima, Fernando Kok, Anne Claude Tabet, Lance H. Rodan, Tim M. Strom, Laurence Perrin, Henry Houlden, Michael C. Kruer, Maja Hempel, Matias Wagner, Mehran Beiraghi Toosi, Yue C. Si, Eva Pipiras, Jonathan Levy, Ehsan Ghayoor Karimiani, Tatjana Bierhals, Fabíola Paoli Monteiro, Hanka Venselaar, Reza Maroofian, Mohammad Doosti, Julia G. Salomao, Sheng Chih Jin, Sabine Jung-Klawitter, Thomas Opladen, Somayeh Bakhtiari, Saskia B. Wortmann, Monica S Cooper
المصدر: Genetics in Medicine, 22, 1061-1068
Genet. Med. 22, 1061-1068 (2020)
Genetics in Medicine, 22, 6, pp. 1061-1068مصطلحات موضوعية: Central Nervous System, Opisthotonus, Homozygote, Tnr, Spastic Tetraparesis, Cerebral Palsy, Exome Sequencing, Developmental Disorder, Biology, medicine.disease, Extracellular Matrix, Developmental disorder, Neurodevelopmental disorder, Muscle Spasticity, Neurodevelopmental Disorders, medicine, Humans, Tenascin-R, Spastic tetraparesis, Missense mutation, Spasticity, medicine.symptom, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Neuroscience, Genetics (clinical), Exome sequencing
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b47343478697bea7b38019996b84eb41Test
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المؤلفون: Anita Rauch, Nathalie Pouvreau, Séverine Drunat, Yves Alembik, Anais Ernault, Liza Vera, Hala Nasser, Katharina Steindl, Fabien Guimiot, Pierre Gressens, Vincent El Ghouzzi, Sophie Guilmin Crepon, Delphine Héron, Nathalie Kubis, Alain Verloes, Natacha Teissier, Marie Laure Moutard, Sandrine Passemard, Florentia Kaguelidou, Alexandra Afenjar, Paolo Milani, Marcella Zollino, Pascaline Letard, Martha Momtchilova, Monique Elmaleh-Bergès
المساهمون: University of Zurich, Passemard, Sandrine, Service d'imagerie pédiatrique, Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], Hôpital Robert Debré, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Department of Medical Genetics, Hôpitaux Universitaires de Strasbourg, Service de Neurologie Pédiatrique, HFME, Bron, France, Hôpital Lariboisière, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Lariboisière-Université Paris Diderot - Paris 7 (UPD7), Unité fonctionnelle de génétique clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Istituto di Genetica Medica, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Institute of Medical Genetics, University of Zürich [Zürich] (UZH), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Universität Zürich [Zürich] = University of Zurich (UZH)
المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2019-106474. ⟨10.1136/jmedgenet-2019-106474⟩مصطلحات موضوعية: Microcephaly, Pathology, medicine.medical_specialty, 2716 Genetics (clinical), 10039 Institute of Medical Genetics, [SDV]Life Sciences [q-bio], CDK5RAP2, intellectual disability, MCPH, primary microcephaly, retinal alteration, sensorineural hearing loss, 610 Medicine & health, Settore MED/03 - GENETICA MEDICA, Microphthalmia, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Holoprosencephaly, 1311 Genetics, Genetics, medicine, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Cochlea, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Retinal, medicine.disease, chemistry, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Brain size, 570 Life sciences, biology, Sensorineural hearing loss, business, 030217 neurology & neurosurgery
وصف الملف: 389.full-1.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909838f5c1cffdd3cdf86d26707ae3d7Test
http://hdl.handle.net/10807/153423Test -
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المؤلفون: Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Bastien Roche, Roseline Froissart, Oriane Mercati, Odile Fenneteau, Manuel Schiff, Marie Ouachee, Samia Pichard, Yves Bertrand, Marie T. Vanier
المصدر: European Journal of Paediatric Neurology. 21:907-911
مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Pediatrics, Early death, Disease, Biology, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Child, Cord blood transplantation, Niemann-Pick Diseases, Mutation, Siblings, Homozygote, General Medicine, Intermediate type, Pedigree, Sphingomyelin Phosphodiesterase, Treatment Outcome, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Neurodevelopmental delay, Female, Cord Blood Stem Cell Transplantation, Neurology (clinical), Acid sphingomyelinase, Neurocognitive, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93a823580bf8756495aa82e5569d852Test
https://doi.org/10.1016/j.ejpn.2017.07.015Test -
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المؤلفون: Françoise Bernaudin, Monique Elmaleh-Bergès, Charlotte Jubert, Olivier Taïeb, Elisabeth Ducros-Miralles, Camille Runel, Eleonore Petras, Catherine Paillard, Corinne Guitton, Claire Galambrun, Aurore Malric, Emmanuella Leveillé, Valentine Brousse, Jean-Hugues Dalle, Isabelle Thuret, Régis Peffault de Latour, Gérard Socié, Gisèle Elana, Annie Kamdem, Suzanne Verlhac, Manuela Vasile, Benedicte Neven, Lydia Divialle-Doumdo, Sylvie Chevret, Florence Missud, Elise Drain, Corinne Pondarré, Cécile Arnaud
المساهمون: Centre Hospitalier Intercommunal de Créteil (CHIC), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Robert Debré Paris, Hôpital Robert Debré, Service de pédiatrie générale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'immuno-hématologie pédiatrique [CHU Necker], Aix Marseille Université (AMU), Hôpital de Hautepierre [Strasbourg], Les Hôptaux universitaires de Strasbourg (HUS), CHU Strasbourg, CHI Créteil, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHU Bordeaux [Bordeaux], CHU de la Martinique [Fort de France], Service de psychopathologie de l'enfant et de l'adolescent, psychiatrie générale [Avicenne], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Avicenne [AP-HP], Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Service de biostatistique et information médicale de l’hôpital Saint Louis (Equipe ECSTRA) (SBIM), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut national du cancer [Boulogne] (INCA)-Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Saint Louis [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Avicenne, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut national du cancer [Boulogne] (INCA)-CHU Saint Louis [APHP], Université Paris 13 (UP13)-Hôpital Avicenne [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut national du cancer [Boulogne] (INCA)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint Louis [APHP]-Institut national du cancer [Boulogne] (INCA), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)
المصدر: JAMA Cardiology
JAMA Cardiology, American Medical Association 2019, 321 (3), pp.266. ⟨10.1001/jama.2018.20059⟩مصطلحات موضوعية: Male, Blood transfusion, Transplantation Conditioning, Ultrasonography, Doppler, Transcranial, medicine.medical_treatment, Graft vs Host Disease, Hematopoietic stem cell transplantation, 01 natural sciences, hydroxyurea, 0302 clinical medicine, 030212 general & internal medicine, Child, Stroke, Original Investigation, transfusions, Hematopoietic Stem Cell Transplantation, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, Allografts, Tissue Donors, Sickle cell anemia, 3. Good health, extracranial internal carotid artery Doppler sonography, Cerebrovascular Circulation, HSCT, Female, Blood Flow Velocity, medicine.medical_specialty, Anemia, Sickle Cell, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, cerebral MRI/MRA, Internal medicine, medicine, ischemic stroke, Humans, 0101 mathematics, Sibling, Propensity Score, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, transcranial Doppler imaging, business.industry, Siblings, 010102 general mathematics, medicine.disease, Transcranial Doppler, Transplantation, Propensity score matching, Ferritins, Quality of Life, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97e2a8e2a461a60c710a2a976008002bTest
https://hal.sorbonne-universite.fr/hal-02305907/documentTest -
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المؤلفون: Jean-Philippe Puech, Antoinette Gelot, Elisa Lopez Hernandez, Hala Nasser, Catherine Caillaud, Stéphane Auvin, Adina Ilea, Samia Pichard, Blandine Dozières-Puyravel, Catherine Delanoë, Monique Elmaleh-Bergès
المصدر: Developmental medicine and child neurologyReferences. 62(4)
مصطلحات موضوعية: Male, 030506 rehabilitation, Pediatrics, medicine.medical_specialty, Disease, Electroencephalography, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Neuronal Ceroid-Lipofuscinoses, medicine, Humans, Intermittent photic stimulation, Retrospective Studies, medicine.diagnostic_test, Tripeptidyl-Peptidase 1, business.industry, Brain, Infant, Magnetic resonance imaging, Retrospective cohort study, medicine.disease, Magnetic Resonance Imaging, Neuronal Ceroid Lipofuscinosis Type 2, Disease Presentation, Child, Preschool, Pediatrics, Perinatology and Child Health, Neuronal ceroid lipofuscinosis, Female, Neurology (clinical), 0305 other medical science, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7246c4a9a2e52ff7118d51f1b5aaf445Test
https://pubmed.ncbi.nlm.nih.gov/31674009Test