المؤلفون: Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M, Motazacker, M Mahdi, Mancini, Grazia MS, van Slegtenhorst, Marjon A, Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A, Sherr, Elliott H, Argilli, Emanuela, England, Eleina M, Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B, Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric

المصدر: American Journal of Human Genetics. 108(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Neurosciences, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Adult, Agenesis of Corpus Callosum, Cerebellum, Child, Child, Preschool, Female, Humans, Hydrolases, Intellectual Disability, Male, Microtubule-Associated Proteins, Models, Molecular, Mutation, Missense, Neurodevelopmental Disorders, Tubulin, Young Adult, DPYSL5, brain malformation, corpus callosum agenesis, de novo missense variants, dendrite branching, neurodevelopmental disorder, primary neuronal cultures, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9t75z0zjTest

المؤلفون: Parenti, I., Lehalle, D., Nava, C., Torti, E., Leitão, E., Person, R., Mizuguchi, T., Matsumoto, N., Kato, M., Nakamura, K., De Man, S. A., Cope, H., Shashi, V., Friedman, J., Joset, P., Steindl, K., Rauch, A., Muffels, I., Van Hasselt, P. M., Petit, Florence, Smol, T., Le Guyader, G., Bilan, F., Sorlin, A., Vitobello, A., Philippe, C., Van De Laar, I. M. B. H., Van Slegtenhorst, M. A., Campeau, P. M., Au, P. Y. B., Nakashima, M., Saitsu, H., Yamamoto, T., Nomura, Y., Louie, R. J., Lyons, M. J., Dobson, A., Plomp, A. S., Motazacker, M. M., Kaiser, F. J., Timberlake, A. T., Fuchs, S. A., Depienne, C., Mignot, C.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

العلاقة: Human Genetics; Hum Genet; http://hdl.handle.net/20.500.12210/84176Test

الإتاحة: https://doi.org/20.500.12210/84176Test
https://hdl.handle.net/20.500.12210/84176Test

المؤلفون: Kerkhof, Jennifer, Rastin, Cassandra, Levy, Michael A, Relator, Raissa, McConkey, Haley, Demain, Leigh, Dominguez-Garrido, Elena, Kaat, Laura Donker, Houge, Sofia Douzgou, DuPont, Barbara R, Fee, Timothy, Fletcher, Robin S, Gokhale, David, Haukanes, Bjørn Ivar, Henneman, Peter, Hilton, Sarah, Hilton, Benjamin A, Jenkinson, Sarah, Lee, Jennifer A, Louie, Raymond J, Motazacker, M Mahdi, Rzasa, Jessica, Stevenson, Roger E, Plomp, Astrid, van der Laan, Liselot, van der Smagt, Jasper, Walden, Kellie K, Banka, Siddharth, Mannens, Marcel, Skinner, Steven A, Friez, Michael J, Campbell, Christopher, Tedder, Matthew L, Alders, Marielle, Sadikovic, Bekim

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:5

مصطلحات موضوعية: DNA methylation, EpiSign, Episignature, Molecular diagnostics, VUS classification

العلاقة: https://doi.org/10.1016/j.gim.2024.101075Test; https://pubmed.ncbi.nlm.nih.gov/38251460Test

الإتاحة: https://doi.org/10.1016/j.gim.2024.101075Test
https://pubmed.ncbi.nlm.nih.gov/38251460Test

المؤلفون: Johannesen, Katrine M., Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E., Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D., Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A., Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R., Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P. Y. Billie, Rho, Jong M., Ho, Alice W., Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E., Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., Braakman, Hilde M. H., van der Zwaag, Bert, Harder, Aster V. E., Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W., Howe, Jennifer, Fazeli, Walid, Howell, Katherine B., Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, B. nédicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M. Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M., Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie Cecile, Destrée, Anne, Schoonjans, An Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddharth, Tan, Wen Hann, Olson, Heather E., Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark P., Goldberg, Ethan M., Roser, Timo, Borggraefe, Ingo, Brünger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Heyne, Henrike O., Lesca, Gaetan, Hedrich, Ulrike B. S., Benda, Jan, Gardella, Elena, Lerche, Holger, Møller, Rikke S.

المصدر: Johannesen , K M , Liu , Y , Koko , M , Gjerulfsen , C E , Sonnenberg , L , Schubert , J , Fenger , C D , Eltokhi , A , Rannap , M , Koch , N A , Lauxmann , S , Krüger , J , Kegele , J , Canafoglia , L , Franceschetti , S , Mayer , T , Rebstock , J , Zacher , P , Ruf , S , Alber , M , Sterbova , K , Lassuthová , P , Vlckova , M , Lemke , J ....

العلاقة: https://research.vumc.nl/en/publications/4003f414-31ea-4133-b28f-02979a4826dfTest

الإتاحة: https://doi.org/10.1093/brain/awab321Test
https://research.vumc.nl/en/publications/4003f414-31ea-4133-b28f-02979a4826dfTest
http://www.scopus.com/inward/record.url?scp=85138447351&partnerID=8YFLogxKTest

المؤلفون: Schoonjans, An Sofie, Johannesen, Katrine M, Liu, Yuanyuan, Koko, Mahmoud, Gjerulfsen, Cathrine E, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina D, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils A, Lauxmann, Stephan, Krüger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthová, Petra, Vlckova, Marketa, Lemke, Johannes R, Platzer, Konrad, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell-Seger, Judith, Lund, Caroline, Klein, Karl Martin, Au, P Y Billie, Rho, Jong M, Ho, Alice W, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoei-Hansen, Christina E, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S, Braakman, Hilde M H, van der Zwaag, Bert, Harder, Aster V E, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastian, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Grønborg, Sabine, Scherer, Stephen W, Howe, Jennifer, Fazeli, Walid, Howell, Katherine B, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Bénédicte, Matricardi, Sara, Bonardi, Claudia M, Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vøllo, Arve, Motazacker, M Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caume, Roseline, Roubertie, Agathe, Gélisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Tibussek, Daniel, Koch-Hogrebe, Margarete, Perry, M Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E, Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann M, Müller-Schlüter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cécile, Destrée, Anne

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, UCL - (SLuc) Centre de référence pour l'épilepsie réfractaire

المصدر: Brain, Vol. 145, no.9, p. 2991-3009 (2022)

مصطلحات موضوعية: Epilepsy, Generalized, Epileptic Syndromes, Genetic Association Studies, Humans, Infant, Intellectual Disability, Mutation, NAV1.6 Voltage-Gated Sodium Channel, Prognosis, Seizures, Sodium Channel Blockers, SCN8A, genetics, personalized medicine

العلاقة: boreal:278286; http://hdl.handle.net/2078.1/278286Test; info:pmid/34431999; urn:ISSN:0006-8950; urn:EISSN:1460-2156

الإتاحة: https://doi.org/10.1093/brain/awab321Test
http://hdl.handle.net/2078.1/278286Test

المؤلفون: Hengeveld, Paul J, Ertem, Y Emre, Dubois, Julie M N, Mellink, Clemens H M, van der Kevie-Kersemaekers, Anne-Marie, Evers, Ludo M, Heezen, Kim, Kolijn, P Martijn, Mook, Olaf R F, Motazacker, M Mahdi, Nasserinejad, Kazem, Kersting, S, Westerweel, Peter E, Niemann, Carsten U, Kater, Arnon P, Langerak, Anton W, Levin, Mark-David

المصدر: Hengeveld , P J , Ertem , Y E , Dubois , J M N , Mellink , C H M , van der Kevie-Kersemaekers , A-M , Evers , L M , Heezen , K , Kolijn , P M , Mook , O R F , Motazacker , M M , Nasserinejad , K , Kersting , S , Westerweel , P E , Niemann , C U , Kater , A P , Langerak , A W & Levin , M-D 2022 , ' Clinicobiological characteristics and treatment efficacy of novel agents in chronic lymphocytic leukemia ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41375-022-01600-6Test
https://pure.eur.nl/en/publications/cca58e3c-bfba-46df-b5e8-942d64040987Test
https://pure.eur.nl/ws/files/54896808/Clinicobiological_characteristics_and_treatment_efficacy_of_novel_agents_in_chronic_lymphocytic_leukemia_with_IGLV3_21R110.pdfTest

المؤلفون: Hengeveld, P., Ertem, Y. E., Dubois, J., Mellink, C., van der Kevie-Kersemaekers, A.-M., Evers, L., Heezen, K., Kolijn, P. M., Mook, O., Motazacker, M. M., Nasserinejad, K., Kersting, S., Westerweel, P., Niemann, C., Kater, A., Langerak, A., Levin, M.-D.

المصدر: HemaSphere ; volume 6, page 508-509 ; ISSN 2572-9241

الإتاحة: https://doi.org/10.1097/01.hs9.0000845324.19039.8aTest

المؤلفون: Levy, Michael, A, Beck, David, B, Metcalfe, Kay, Douzgou, Sofia, Sithambaram, Sivagamy, Cottrell, Trudie, Ansar, Muhammad, Kerkhof, Jennifer, Mignot, Cyril, Nougues, Marie-Christine, Keren, Boris, Moore, Hannah, W, Oegema, Renske, Giltay, Jacques, C, Simon, Marleen, van Jaarsveld, Richard, H, Bos, Jessica, van Haelst, Mieke, Motazacker, M Mahdi, Boon, Elles, M J, Santen, Gijs, W E, Ruivenkamp, Claudia, a L, Alders, Marielle, Luperchio, Teresa Romeo, Boukas, Leandros, Ramsey, Keri, Narayanan, Vinodh, Schaefer, G Bradley, Bonasio, Roberto, Doheny, Kimberly, F, Stevenson, Roger, E, Banka, Siddharth, Sadikovic, Bekim, Fahrner, Jill, A, Motazacker, M. Mahdi, Schaefer, G. Bradley

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: EISSN: 2056-7944 ; npj Genomic Medicine ; https://hal.sorbonne-universite.fr/hal-04534039Test ; npj Genomic Medicine, 2021, 6 (1), pp.92. ⟨10.1038/s41525-021-00256-y⟩

مصطلحات موضوعية: [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34750377; hal-04534039; https://hal.sorbonne-universite.fr/hal-04534039Test; https://hal.sorbonne-universite.fr/hal-04534039/documentTest; https://hal.sorbonne-universite.fr/hal-04534039/file/s41525-021-00256-y.pdfTest; PUBMED: 34750377; PUBMEDCENTRAL: PMC8576018

الإتاحة: https://doi.org/10.1038/s41525-021-00256-yTest
https://hal.sorbonne-universite.fr/hal-04534039Test
https://hal.sorbonne-universite.fr/hal-04534039/documentTest
https://hal.sorbonne-universite.fr/hal-04534039/file/s41525-021-00256-y.pdfTest

المؤلفون: Stitziel, Nathan O, Peloso, Gina M, Abifadel, Marianne, Cefalu, Angelo B, Fouchier, Sigrid, Motazacker, M Mahdi, Tada, Hayato, Larach, Daniel B, Awan, Zuhier, Haller, Jorge F, Pullinger, Clive R, Varret, Mathilde, Rabès, Jean-Pierre, Noto, Davide, Tarugi, Patrizia, Kawashiri, Masa-Aki, Nohara, Atsushi, Yamagishi, Masakazu, Risman, Marjorie, Deo, Rahul, Ruel, Isabelle, Shendure, Jay, Nickerson, Deborah A, Wilson, James G, Rich, Stephen S, Gupta, Namrata, Farlow, Deborah N, Neale, Benjamin M, Daly, Mark J, Kane, John P, Freeman, Mason W, Genest, Jacques, Rader, Daniel J, Mabuchi, Hiroshi, Kastelein, John JP, Hovingh, G Kees, Averna, Maurizio R, Gabriel, Stacey, Boileau, Catherine, Kathiresan, Sekar

المصدر: Circulation Genomic and Precision Medicine. 8(2)

مصطلحات موضوعية: Clinical Research, Human Genome, Atherosclerosis, Genetics, Aetiology, 2.1 Biological and endogenous factors, Dyslipidemias, Exome, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Metabolism, Inborn Errors, DNA sequencing, exome, genetics, human, lipids, Medical Biotechnology, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2g38z74sTest

المؤلفون: Parenti, Ilaria, Lehalle, Daphné, Nava, Caroline, Torti, Erin, Leitão, Elsa, Person, Richard, Mizuguchi, Takeshi, Matsumoto, Naomichi, Kato, Mitsuhiro, Nakamura, Kazuyuki, de Man, Stella, Cope, Heidi, Shashi, Vandana, Friedman, Jennifer, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Muffels, Irena, van Hasselt, Peter M, petit, florence, Smol, Thomas, Le Guyader, Gwenaël, Bilan, Frédéric, Sorlin, Arthur, Vitobello, Antonio, PHILIPPE, Christophe, van de Laar, Ingrid, van Slegtenhorst, Marjon A., Campeau, Philippe, Au, Ping Yee, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamamoto, Tatsuya, Nomura, Yumiko, Louie, Raymond, Lyons, Michael, Dobson, Amy, Plomp, Astrid S., Motazacker, M. Mahdi, Kaiser, Frank J., Timberlake, Andrew, Fuchs, Sabine, Depienne, Christel, Mignot, Cyril

المصدر: http://lobid.org/resources/99370671251406441Test#!, 140(7):1109-1120.

مصطلحات موضوعية: Adolescent [MeSH], Female [MeSH], Catalytic Domain [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Genes, Dominant [MeSH], Molecular Medicine, Neurodevelopmental Disorders/physiopathology [MeSH], Nerve Tissue Proteins/genetics [MeSH], Mutation, Missense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Cohort Studies [MeSH], DNA Helicases/genetics [MeSH], Intellectual Disability/physiopathology [MeSH], Original Investigation, Pedigree [MeSH], Male [MeSH], Metabolic Diseases, Young Adult [MeSH], Gene Function, Child [MeSH], Epilepsy/genetics [MeSH], Child, Preschool [MeSH], Human Genetics

العلاقة: https://repository.publisso.de/resource/frl:6446838Test; https://doi.org/10.1007/s00439-021-02283-2Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197709Test/

الإتاحة: https://doi.org/10.1007/s00439-021-02283-2Test
https://repository.publisso.de/resource/frl:6446838Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8197709Test/