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1دورية أكاديمية
المؤلفون: Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E H, van Jaarsveld, Richard H, Oegema, Renske, van Gassen, Koen L I, Holwerda, Sjoerd J B, Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y, Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K, Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan
المساهمون: Integrale & Alg. Kindergen Patientenzorg, Child Health, Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Brain
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, Epilepsy/genetics, Exome Sequencing, Female, Genetic Diseases, X-Linked/genetics, Heterozygote, Humans, Infant, Male, Mutation, Missense/genetics, Neurodevelopmental Disorders/genetics, Pedigree, Phenotype, Shal Potassium Channels/genetics, Journal Article
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, Mcconkey, Haley, Kerkhof, Jennifer, Levy, Michael, A, Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew, L, Vissers, Lisenka, E L M, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, J V, Wieczorek, Dagmar, Bramswig, Nuria, C, Herget, Theresia, González, Vanesa, López, Santos-Simarro, Fernando, Tørring, Pernille, M, Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, van Esch, Hilde, Mannens, Marcel, M a M, Sadikovic, Bekim, van Haelst, Mieke, M, Henneman, Peter
المساهمون: Amsterdam University Medical Centers (Amsterdam UMC), Western University London, ON, Canada, Amsterdam UMC - Amsterdam University Medical Center, Emma Children’s Hospital, Centre for Human Genetics, University Hospitals Leuven, Catholic University of Leuven, The Greenwood Genetic Center, Radboud University Medical Center Nijmegen, Department of Clinical Genetics (Leiden University Medical Center), Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University -Universiteit Leiden = Leiden University, Heinrich Heine Universität Düsseldorf = Heinrich Heine University Düsseldorf, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca Murcia, Hospital Universitario La Paz, Odense University Hospital (OUH), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de génétique médicale CHU Nantes, Centre hospitalier universitaire de Nantes (CHU Nantes), Sorbonne Université (SU), Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Génétique Médicale CHU Toulouse, Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Génétique Médicale CHU Clermont-Ferrand, CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut Jérôme Lejeune
المصدر: ISSN: 1661-6596.
مصطلحات موضوعية: TRIP12, Clark–Baraitser syndrome, intellectual disability, DNA methylation, episignature, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36430143; hal-04098955; https://hal.science/hal-04098955Test; https://hal.science/hal-04098955/documentTest; https://hal.science/hal-04098955/file/VanderLaan-2022.pdfTest; PUBMED: 36430143
الإتاحة: https://doi.org/10.3390/ijms232213664Test
https://hal.science/hal-04098955Test
https://hal.science/hal-04098955/documentTest
https://hal.science/hal-04098955/file/VanderLaan-2022.pdfTest -
3دورية أكاديمية
المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda, Sun, Jia-Hui, Ge, Yu-Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura, Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe, Pedersen, Miriam, Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa, Sully, Krystal, Murali, Chaya, Burrage, Lindsay, Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, Mcniven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Zeev, Bruria Ben, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke, Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes, Shi, Yun Stone, Kristensen, Anders
المساهمون: Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP, 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), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut du Thorax Nantes, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Laboratoires de neurosciences intégratives et cliniques (EA 481), Université Bourgogne Franche-Comté COMUE (UBFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC)-Université Bourgogne Franche-Comté COMUE (UBFC), Pathophysiologie et génétique du neurone et du muscle (PGNM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Les Hôpitaux Universitaires de Strasbourg (HUS), University of Copenhagen = Københavns Universitet (UCPH), AB (Allan Bayat) is funded by Novo Nordisk Foundation BRIDGE Programme (NNF20SA0064340). JHS (Jia-Hui Sun) is supported by the National Natural ScienceFoundation of China (32200779). The research conducted at the Murdoch Children's Research Institute (MCRI) was supported by the Victorian Government's Operational InfrastructureSupport Program. The Royal Children’s Hospital Foundation generously supports the Chair in Genomic Medicine awarded to JC. LCB (Lindsay Catherine Burrage) is supported by NIH (5U54OD030165). YSS (Yun Stone Shi) is supported by the National Key R & D Program of China (2019YFA0801603), the National Natural Science Foundation of China (32170951), the Fundamental Research Funds for the Central Universities (021414380533) and Special Fund for Science and Technology Innovation Strategy of Guangdong Province (2021B0909050004). ASK (Anders Skov Kristensen) is supported by Independent Research Fund Denmark (3101-00386B).
المصدر: ISSN: 0006-8950.
مصطلحات موضوعية: AMPA receptor, GRIA, GRIA3, clinical biomarker, genotype-phenotype, [SDV.GEN]Life Sciences [q-bio]/Genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38038360; hal-04386909; https://univ-rennes.hal.science/hal-04386909Test; https://univ-rennes.hal.science/hal-04386909/documentTest; https://univ-rennes.hal.science/hal-04386909/file/Rinaldi%20et%20al-2023-Gain-of-function%20and%20loss-of-function%20variants%20in%20GRIA3%20lead%20to%20distinct%20neurodevelopmental%20phenotypes.pdfTest; PUBMED: 38038360
الإتاحة: https://doi.org/10.1093/brain/awad403Test
https://univ-rennes.hal.science/hal-04386909Test
https://univ-rennes.hal.science/hal-04386909/documentTest
https://univ-rennes.hal.science/hal-04386909/file/Rinaldi%20et%20al-2023-Gain-of-function%20and%20loss-of-function%20variants%20in%20GRIA3%20lead%20to%20distinct%20neurodevelopmental%20phenotypes.pdfTest -
4دورية أكاديمية
المؤلفون: Papingi, Dzhoy, Bierhals, Tatjana, Volk, Alexander E., Kutsche, Michael, Paul, Kevin, Herget, Theresia
المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 5 ; ISSN 1552-4825 1552-4833
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5دورية أكاديمية
المؤلفون: Mund, Meike, Uhlenbusch, Natalie, Rillig, Franziska, Weiler-Normann, Christina, Herget, Theresia, Kubisch, Christian, Löwe, Bernd, Schramm, Christoph
المساهمون: Universitätsklinikum Hamburg-Eppendorf (UKE)
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
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6دورية أكاديمية
المؤلفون: Vakkilainen, Svetlana, Ahonen, Kira, Marsh, Rebecca, Secord, Elizabeth, Puck, Jennifer, Pozos, Tamara, Seroogy, Christine M., Sullivan, Kathleen E., Walkovich, Kelly, Hartog, Nicholas L., Lugar, Patricia, Herget, Theresia, Garcia-Prat, Marina, Martin-Nalda, Andrea, Ciznar, Peter, Edgar, John David, Candotti, Fabio, Hellige, Antje, Kindle, Gerhard, Dabrowska-Leonik, Nel
المصدر: Journal of Clinical Immunology; Jun2024, Vol. 44 Issue 5, p1-4, 4p
مصطلحات موضوعية: SEVERE combined immunodeficiency, RUBELLA, MORTALITY risk factors, HERPES simplex
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7دورية أكاديمية
المؤلفون: Papingi, Dzhoy, Bierhals, Tatjana, Volk, Alexander E., Kutsche, Michael, Paul, Kevin, Herget, Theresia
المصدر: American Journal of Medical Genetics. Part A; May2024, Vol. 194 Issue 5, p1-6, 6p
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8دورية أكاديمية
المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda G., Sun, Jia Hui, Ge, Yu Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura H., Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe M., Pedersen, Miriam G., Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa T., Sully, Krystal, Murali, Chaya N., Burrage, Lindsay C., Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, McNiven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Ben-Zeev, Bruria, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke S., Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes R., Shi, Yun Stone, Kristensen, Anders S.
المصدر: Rinaldi , B , Bayat , A , Zachariassen , L G , Sun , J H , Ge , Y H , Zhao , D , Bonde , K , Madsen , L H , Awad , I A A , Bagiran , D , Sbeih , A , Shah , S M , El-Sayed , S , Lyngby , S M , Pedersen , M G , Stenum-Berg , C , Walker , L C , Krey , I , Delahaye-Duriez , A , Emrick , L T , Sully , K , Murali , C N ....
الإتاحة: https://doi.org/10.1093/brain/awad403Test
https://pure.eur.nl/en/publications/d8f07fae-d289-416a-95eb-d6afb33abf5eTest
http://www.scopus.com/inward/record.url?scp=85192220050&partnerID=8YFLogxKTest -
9دورية أكاديمية
المؤلفون: van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A., Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew L., Vissers, Lisenka E. L. M., Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette J. V., Wieczorek, Dagmar, Bramswig, Nuria C., Herget, Theresia, González, Vanesa L. pez, Santos-Simarro, Fernando, Tørring, Pernille M., Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, van Esch, Hilde, Mannens, Marcel M. A. M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
المصدر: van der Laan , L , Rooney , K , Alders , M , Relator , R , McConkey , H , Kerkhof , J , Levy , M A , Lauffer , P , Aerden , M , Theunis , M , Legius , E , Tedder , M L , Vissers , L E L M , Koene , S , Ruivenkamp , C , Hoffer , M J V , Wieczorek , D , Bramswig , N C , Herget , T , González , V L P , Santos-Simarro , F , Tørring , P ....
الإتاحة: https://doi.org/10.3390/ijms232213664Test
https://research.vumc.nl/en/publications/37733ab5-b0e7-4f5d-adce-0043c55e4ee1Test
http://www.scopus.com/inward/record.url?scp=85142841701&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valerie, Bhatia, Kailash P., Bierhals, Tatjana, Bosselmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco-Fenzy, Martine, Gessner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Mehrjardi, Mohammad Yahya Vahidi, Moudi, Mahdiyeh, Mueller, Amelie J., Oostra, Anna, Pletcher, Beth A., Ros-Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez-Puertas, Paulino, Moller, Rikke S., Tuemer, Zeynep
المصدر: CLINICAL GENETICS ; ISSN: 0009-9163 ; ISSN: 1399-0004
مصطلحات موضوعية: Medicine and Health Sciences, INTELLECTUAL DISABILITY, GENE, HAPLOINSUFFICIENCY, MUTATIONS, DELETION, ONSET, epilepsy, language impairement, movement, disorder, neurodevelopmental disorder, ZNF142
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01GSSQW1W69EWCCTCCCZYHD0W2Test; http://hdl.handle.net/1854/LU-01GSSQW1W69EWCCTCCCZYHD0W2Test; http://doi.org/10.1111/cge.14165Test; https://biblio.ugent.be/publication/01GSSQW1W69EWCCTCCCZYHD0W2/file/01GSSQXC5BBGYR2SVX5MDTVEPMTest
الإتاحة: https://doi.org/10.1111/cge.14165Test
https://biblio.ugent.be/publication/01GSSQW1W69EWCCTCCCZYHD0W2Test
http://hdl.handle.net/1854/LU-01GSSQW1W69EWCCTCCCZYHD0W2Test
https://biblio.ugent.be/publication/01GSSQW1W69EWCCTCCCZYHD0W2/file/01GSSQXC5BBGYR2SVX5MDTVEPMTest
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