المؤلفون: Tessarech M; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France. Electronic address: marine.tessarech@chu-lille.fr., Friocourt G; INSERM, Univ Brest, EFS, UMR 1078, GGB, Brest, France., Marguet F; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Lecointre M; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Le Mao M; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Díaz RM; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Mignot C; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism' Paris, France., Keren B; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism' Paris, France; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Héron B; Sorbonne University, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, Paris, France; Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Trousseau Hospital, APHP, GRC ConCer-LD, Sorbonne Universities, UPMC University, Paris, France., De Bie C; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Loisel D; Department of Radiology, Angers University Hospital, Angers, France., Delorme B; Department of Radiology, Angers University Hospital, Angers, France., Syrbe S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg, Germany., Klabunde-Cherwon A; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Wegler M; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Callewaert B; Center for Medical Genetics, Department of Biomolecular Medicine, Gent, Belgium., Dheedene A; Center for Medical Genetics, Department of Biomolecular Medicine, Gent, Belgium., Zidane-Marinnes M; Department of Pathology, Angers University Hospital, Angers, France., Guichet A; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Bris C; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Van Bogaert P; Department of Neuropediatrics, Angers University Hospital, Angers, France., Biquard F; Department of Gynecology, Angers University Hospital, Angers, France., Lenaers G; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Marcorelles P; Department of Pathology, Brest University Hospital, Brest, France., Ferec C; INSERM, Univ Brest, EFS, UMR 1078, GGB, Brest, France., Gonzalez B; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Procaccio V; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Vitobello A; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD (Génétique des Anomalies du Développement), FHU-TRANSLAD, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Bonneau D; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Laquerriere A; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Khiati S; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France. Electronic address: escolin@chu-angers.fr.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101087. Date of Electronic Publication: 2024 Jan 27.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Autism Spectrum Disorder*/pathology , Epilepsy*/genetics , Epilepsy*/pathology , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Interneurons*/metabolism , Interneurons*/pathology , Transcription Factors*/genetics , Transcription Factors*/metabolism , Sp Transcription Factors*/genetics, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Heterozygote ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology ; Phenotype

المؤلفون: Lan, Jiawen, Gui, Liangqi, Lang, Liang, Huang, Quanliang

المصدر: 2024 IEEE International Workshop on Radio Frequency and Antenna Technologies (iWRF&AT) Radio Frequency and Antenna Technologies (iWRF&AT), 2024 IEEE International Workshop on. :229-234 May, 2024

Relation: 2024 IEEE International Workshop on Radio Frequency and Antenna Technologies (iWRF&AT)

المؤلفون: Rawat, S., Bamola, P., Karishma, ., Rani, C., Dhoundiyal, H., Sharma, N., Dwivedi, C., Kumar, U., Satyarthi, P.S., Sharma, M., Kumar, R., Sharma, H.

المصدر: IEEE Sensors Journal IEEE Sensors J. Sensors Journal, IEEE. 24(14):22218-22226 Jul, 2024

المؤلفون: Li, J., Yang, M., Lewis, F.L., Zheng, M.

المصدر: IEEE Transactions on Industrial Informatics IEEE Trans. Ind. Inf. Industrial Informatics, IEEE Transactions on. 20(7):9465-9475 Jul, 2024

المؤلفون: Xu, X., Zhang, X., Zhang, Q., Wang, Y., Adebisi, B., Ohtsuki, T., Sari, H., Gui, G.

المصدر: IEEE Internet of Things Journal IEEE Internet Things J. Internet of Things Journal, IEEE. 11(12):21816-21826 Jun, 2024

المؤلفون: Cai, Z., Zhang, S., Guo, P., Zhang, J., Hu, L.

المصدر: IEEE Transactions on Systems, Man, and Cybernetics: Systems IEEE Trans. Syst. Man Cybern, Syst. Systems, Man, and Cybernetics: Systems, IEEE Transactions on. 54(5):2822-2832 May, 2024

المؤلفون: Toma, Nadiatul Islam, Kashem, Mohammod Abul, Rana, Sohel

المصدر: 2024 3rd International Conference on Advancement in Electrical and Electronic Engineering (ICAEEE) Advancement in Electrical and Electronic Engineering (ICAEEE), 2024 3rd International Conference on. :1-6 Apr, 2024

Relation: 2024 3rd International Conference on Advancement in Electrical and Electronic Engineering (ICAEEE)

المؤلفون: Kumar, T. R. Dinesh, Babu, S. Sivasaravana, Pushpaswetha, M, Revathi, G, Shobana, B, R, Subasri

المصدر: 2024 International Conference on Recent Advances in Electrical, Electronics, Ubiquitous Communication, and Computational Intelligence (RAEEUCCI) Recent Advances in Electrical, Electronics, Ubiquitous Communication, and Computational Intelligence (RAEEUCCI), 2024 International Conference on. :1-5 Apr, 2024

Relation: 2024 International Conference on Recent Advances in Electrical, Electronics, Ubiquitous Communication, and Computational Intelligence (RAEEUCCI)

المؤلفون: Zhang, Shuo, Guan, Xuefeng, Li, Zhenqiang, Wu, Huayi

المصدر: 2024 5th International Seminar on Artificial Intelligence, Networking and Information Technology (AINIT) Artificial Intelligence, Networking and Information Technology (AINIT), 2024 5th International Seminar on. :341-348 Mar, 2024

Relation: 2024 5th International Seminar on Artificial Intelligence, Networking and Information Technology (AINIT)

المؤلفون: Jin, Donghui, Wang, Desheng, Hu, Yunhao, Zhou, Shuqing, Huang, Guanggan, Hou, Bangguang, Gao, Jia

المصدر: 2024 7th International Conference on Advanced Algorithms and Control Engineering (ICAACE) Advanced Algorithms and Control Engineering (ICAACE), 2024 7th International Conference on. :342-346 Mar, 2024

Relation: 2024 7th International Conference on Advanced Algorithms and Control Engineering (ICAACE)