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1دورية أكاديمية
المؤلفون: Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti
المصدر: Epilepsia Open, Vol 9, Iss 1, Pp 106-121 (2024)
مصطلحات موضوعية: ADSL deficiency, EEG patterns, epilepsy, genotype‐phenotype correlation, monogenic diseases, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2470-9239Test
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2دورية أكاديمية
المؤلفون: Yonika A. Larasati, Gonzalo P. Solis, Alexey Koval, Silja T. Griffiths, Ragnhild Berentsen, Ingvild Aukrust, Gaetan Lesca, Nicolas Chatron, Dorothée Ville, Christian M. Korff, Vladimir L. Katanaev
المصدر: Cells, Vol 12, Iss 20, p 2469 (2023)
مصطلحات موضوعية: pediatric encephalopathy, GNAO1, G proteins, Gαo, dominant mutation, case report, Cytology, QH573-671
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
المصدر: EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
مصطلحات موضوعية: KCNQ2, Gain-of-function, Amitriptyline, Autism, Developmental and epileptic encephalopathy, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2352396422003115Test; https://doaj.org/toc/2352-3964Test
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4دورية أكاديمية
المؤلفون: Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily, Gaëtan Lesca
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
مصطلحات موضوعية: Schizophrenia, Childhood onset schizophrenia, CHD2, Genetic counselling, Chromatin, Chromodomain helicase DNA-binding, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2350Test
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5دورية أكاديمية
المؤلفون: Gianluca D'Onofrio, Mathieu Kuchenbuch, Caroline Hachon-Le Camus, Béatrice Desnous, Véronique Staath, Sylvia Napuri, Dorothée Ville, Jean-Michel Pedespan, Anne Lépine, Claude Cances, Anne de Saint-Martin, Théo Teng, Nicole Chemaly, Mathieu Milh, Nathalie Villeneuve, Rima Nabbout
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: Dravet, Lennox-Gastaut, adverse events, liver function, tolerability, drug resistant, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.00829/fullTest; https://doaj.org/toc/1664-2295Test
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6دورية أكاديمية
المؤلفون: Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti
المساهمون: Cutillo, Gianni, Masnada, Silvia, Lesca, Gaetan, Ville, Dorothée, Accorsi, Patrizia, Giordano, Lucio, Pichiecchio, Anna, Valente, Marialuisa, Borrelli, Paola, Eleonora Ferraro, Ottavia, Veggiotti, Pierangelo
مصطلحات موضوعية: ADSL deficiency, EEG pattern, epilepsy, genotype-phenotype correlation, monogenic diseases
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37842880; info:eu-repo/semantics/altIdentifier/wos/WOS:001108883900001; firstpage:1; lastpage:33; numberofpages:33; journal:EPILEPSIA OPEN; https://hdl.handle.net/11564/817871Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85177835046; https://onlinelibrary.wiley.com/journal/24709239Test
الإتاحة: https://doi.org/10.1002/epi4.12837Test
https://hdl.handle.net/11564/817871Test
https://onlinelibrary.wiley.com/journal/24709239Test -
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المؤلفون: Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben-Zeev, Samuel F. Berkovic, Martin Broly, Patrick Callaerts, Raymond C. Caylor, Perrine Charles, Nicolas Chatron, Lior Cohen, Antonietta Coppola, Dawn Cordeiro, Claudia Cuccurullo, Ivon Cuscó, null Janette diMonda, Ramon Duran-Romaña, Nina Ekhilevitch, Paula Fernández-Alvarez, Christopher T. Gordon, Bertrand Isidor, Boris Keren, Gaetan Lesca, Jarymke Maljaars, Saadet Mercimek-Andrews, Michelle M. Morrow, Alison M. Muir, Frederic Rousseau, Vincenzo Salpietro, Ingrid E. Scheffer, Rhonda E. Schnur, Joost Schymkowitz, Erika Souche, Jean Steyaert, Elliot S. Stolerman, Jaime Vengoechea, Dorothée Ville, Camerun Washington, Karin Weiss, Rinat Zaid, Lynette G. Sadleir, Heather C. Mefford, Hilde Peeters
المصدر: Genetics in Medicine. 24:2464-2474
مصطلحات موضوعية: Epilepsy, Autism Spectrum Disorder, Developmental Disabilities, Intellectual Disability, Ubiquitin-Protein Ligases, Mutation, Missense, Humans, Child, Seizures, Febrile, Genetics (clinical), Adaptor Proteins, Signal Transducing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8667d6e12377ca40b4af5f3614b402Test
https://doi.org/10.1016/j.gim.2022.08.020Test -
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المؤلفون: Mona Massoud, Maude Chollet, Sara Cabet, Marine Butin, Yahia Mekki, Geneviève Lina-Granade, Axel Fichez, Jocelyne Attia, Dorothée Ville, Laurent Guibaud
المصدر: Fetal Diagnosis and Therapy.
مصطلحات موضوعية: Embryology, Pediatrics, Perinatology and Child Health, Obstetrics and Gynecology, Radiology, Nuclear Medicine and imaging, General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3dd366837dfce655ee71edaea2d4ab1aTest
https://doi.org/10.1159/000527921Test -
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المؤلفون: Pierre-Yves, Maillard, Sarah, Baer, Élise, Schaefer, Béatrice, Desnous, Nathalie, Villeneuve, Anne, Lépine, Alexandre, Fabre, Caroline, Lacoste, Salima, El Chehadeh, Amélie, Piton, Louise Frances, Porter, Caroline, Perriard, Marie-Thérèse Abi, Wardé, Marie-Aude, Spitz, Vincent, Laugel, Gaëtan, Lesca, Audrey, Putoux, Dorothée, Ville, Cyril, Mignot, Delphine, Héron, Rima, Nabbout, Giulia, Barcia, Marlène, Rio, Agathe, Roubertie, Pierre, Meyer, Véronique, Paquis-Flucklinger, Olivier, Patat, Jérémie, Lefranc, Marion, Gerard, Julietta, de Bellescize, Laurent, Villard, Anne, De Saint Martin, Mathieu, Milh
المصدر: EpilepsiaREFERENCES. 63(10)
مصطلحات موضوعية: Cohort Studies, Epilepsy, Phenotype, Mutation, Humans, Epilepsy, Generalized, Receptors, GABA-A, Genetic Association Studies, gamma-Aminobutyric Acid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::06cb7b9d7c7192c6750e67d326e49040Test
https://pubmed.ncbi.nlm.nih.gov/35718920Test -
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المؤلفون: Lionel Arnaud, Marie-Thérèse Abi Warde, Giulia Barcia, Julitta de Bellescize, Nicolas Chatron, Marie Faoucher, Anne de Saint Martin, Delphine Héron, Guillaume Jedraszak, Caroline Lacoste, Anne-Sophie Lèbre, Mélanie Jenneson-Lyver, Audrey Labalme, Eric Leguern, Cyril Mignot, Mathieu Milh, Rima Nabbout, Caroline Nava, Eleni Panagiotakaki, Amélie Piton, Elise Schaefer, Julien Thevenon, Laurent Villard, Dorothée Ville, Gaetan Lesca
المساهمون: HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, 2022, 65 (3), pp.104445. ⟨10.1016/j.ejmg.2022.104445⟩مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, Epilepsy, High-Throughput Nucleotide Sequencing, Nerve Tissue Proteins, General Medicine, Potassium Channels, Sodium-Activated, Cadherins, Protocadherins, Epilepsy Monogenic Mendelian Next-generation sequencing Gene panel Whole-genome sequencing, Mutation, Genetics, Humans, Genetic Predisposition to Disease, France, Genetic Testing, Child, Genetics (clinical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb65b8e29c1ee91950f6590e304a9c47Test
https://hal-amu.archives-ouvertes.fr/hal-03949438/documentTest
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