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1دورية أكاديمية
المؤلفون: Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly
المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
مصطلحات موضوعية: Paralogs, Gene family, Conservation, Missense variants, Neurodevelopmental disorders, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المصدر: European journal of human genetics : EJHG. 25(7)
مصطلحات موضوعية: Epi4K Consortium, EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project, Humans, Spasms, Infantile, Genetic Predisposition to Disease, Gene Frequency, Linkage Disequilibrium, Polymorphism, Genetic, Infant, Genome-Wide Association Study, Lennox Gastaut Syndrome, Pediatric, Neurosciences, Genetics, Brain Disorders, Epilepsy, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/82j6m40z
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3دورية أكاديمية
المؤلفون: Heyne, Henrike O.Aff1, Aff2, Aff3, Aff4, Singh, TarjinderAff2, Aff4, Stamberger, HannahAff5, Aff6, Aff7, Abou Jamra, Rami, Caglayan, Hande, Craiu, Dana, De Jonghe, PeterAff5, Aff6, Aff7, Guerrini, Renzo, Helbig, Katherine L., Koeleman, Bobby P. C., Kosmicki, Jack A.Aff2, Aff4, Linnankivi, Tarja, May, Patrick, Muhle, Hiltrud, Møller, Rikke S.Aff16, Aff17, Neubauer, Bernd A., Palotie, Aarno, Pendziwiat, Manuela, Striano, Pasquale, Tang, Sha, Wu, Sitao, EuroEPINOMICS RES Consortium, Poduri, Annapurna, Weber, Yvonne G., Weckhuysen, SarahAff5, Aff6, Aff7, Sisodiya, Sanjay M.Aff24, Aff25, Daly, Mark J.Aff2, Aff4, Helbig, IngoAff11, Aff15, Lal, DennisAff2, Aff4, Aff26, Lemke, Johannes R.Aff1
المصدر: Nature Genetics. 50(7):1048-1053
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4دورية أكاديمية
المؤلفون: Siekierska, Aleksandra, Stamberger, HannahAff2, Aff3, Aff4, Deconinck, TineAff2, Aff3, Oprescu, Stephanie N., Partoens, Michèle, Zhang, Yifan, Sourbron, Jo, Adriaenssens, EliasAff3, Aff6, Mullen, Patrick, Wiencek, Patrick, Hardies, KatiaAff2, Aff3, Lee, Jeong-SooAff8, Aff9, Aff10, Giong, Hoi-KhoanhAff8, Aff9, Aff10, Distelmaier, Felix, Elpeleg, Orly, Helbig, Katherine L., Hersh, Joseph, Isikay, Sedat, Jordan, Elizabeth, Karaca, EnderAff17, Aff30, Kecskes, AngelaAff1, Aff31, Lupski, James R.Aff17, Aff18, Aff19, Aff20, Kovacs-Nagy, Reka, May, Patrick, Narayanan, Vinodh, Pendziwiat, Manuela, Ramsey, Keri, Rangasamy, Sampathkumar, Shinde, Deepali N., Spiegel, RonenAff26, Aff27, Timmerman, VincentAff3, Aff6, von Spiczak, SarahAff24, Aff28, Helbig, IngoAff13, Aff24, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen, SarahAff2, Aff3, Aff4, Francklyn, Christopher, Antonellis, AnthonyAff5, Aff29, de Witte, PeterAff1, De Jonghe, PeterAff2, Aff3, Aff4
المصدر: Nature Communications. 10(1)
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5دورية أكاديمية
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المؤلفون: Galer, Peter D, Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E, Pendziwiat, Manuela, Helbig, Katherine L, Ellis, Colin A, Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, NCEE Study Group, EPGP Investigators, EuroEPINOMICS-RES Consortium, Genomics Research and Innovation Network, Thomas, Rhys H, Krause, Roland, Weber, Yvonne, Helbig, Ingo
المصدر: American journal of human genetics, vol 107, iss 4
مصطلحات موضوعية: Male, GABA Plasma Membrane Transport Proteins, Gene Expression, Human Phenotype Ontology, Neurodegenerative, Infantile, computational phenotypes, Medical and Health Sciences, Speech Disorders, Spasms, Cohort Studies, Shab Potassium Channels, Munc18 Proteins, NCEE Study Group, Seizures, Terminology as Topic, Genomics Research and Innovation Network, Exome Sequencing, electronic medical records, Genetics, Humans, 2.1 Biological and endogenous factors, whole-exome sequencing, Aetiology, Child, Preschool, neurogenetic disorders, Pediatric, Genetics & Heredity, Epilepsy, Prevention, Neurosciences, EuroEPINOMICS-RES Consortium, Biological Sciences, Semantics, Brain Disorders, NAV1.1 Voltage-Gated Sodium Channel, Phenotype, Gene Ontology, childhood epilepsies, developmental and epileptic encephalopathies, Good Health and Well Being, Mutation, Female, EPGP Investigators
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______325::f2589b8ee665875f89a68b75031f06cf
https://escholarship.org/uc/item/1jp636w4 -
7دورية أكاديمية
المؤلفون: Manivannan, Sathiya N, Roovers, Jolien, Smal, Noor, Myers, Candace T, Turkdogan, Dilsad, Roelens, Filip, Kanca, Oguz, Chung, Hyung-Lok, Scholz, Tasja, Hermann, Katharina, Bierhals, Tatjana, Caglayan, Hande S, Stamberger, Hannah, Consortium, MAE Working Group of EuroEPINOMICS RES, Mefford, Heather, Jonghe, Peter de, Yamamoto, Shinya, Weckhuysen, Sarah, Bellen, Hugo J, MAE Working Group of EuroEPINOMICS RES Consortium
المصدر: Brain: A Journal of Neurology; May2022, Vol. 145 Issue 5, p1684-1697, 14p
مصطلحات موضوعية: RESEARCH, EPILEPSY, CRANIOFACIAL abnormalities, CELL cycle proteins, EVALUATION research, COMPARATIVE studies, RESEARCH funding, PHENOTYPES, ATAXIA
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8Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
المؤلفون: Chatron, N, Becker, F, Morsy, H, Schmidts, M, Hardies, K, Tuysuz, B, Roselli, S, Najafi, M, Alkaya, DU, Ashrafzadeh, F, Nabil, A, Omar, T, Maroofian, R, Karimiani, EG, Hussien, H, Kok, F, Ramos, L, Gunes, N, Bilguvar, K, Labalme, A, Alix, E, Sanlaville, D, de Bellescize, J, Poulat, A-L, EuroEpinomics-RES consortium AR working group, Moslemi, A-R, Lerche, H, May, P, Lesca, G, Weckhuysen, S, Tajsharghi, H
المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], University of Luxembourg: High Performance Computing - ULHPC [research center]
مصطلحات موضوعية: cleft palate, Epilepsy, Hypsarrhythmia, omphalocele, GAD1, Suppression-burs, Developmental Syndrome, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], arthrogryposis
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e1d5d958c0088610c4f09ff7f43a15b3
http://orbilu.uni.lu/handle/10993/42973 -
9دورية أكاديمية
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10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.