المؤلفون: Tran Mau-Them, F., Delanne, J., Denommé-Pichon, A. S., Safraou, H., Bruel, A. L., Vitobello, A., Garde, A., Nambot, S., Bourgon, N., Racine, C., Sorlin, A., Moutton, S., Marle, N., Rousseau, T., Sagot, P., Simon, E., Vincent-Delorme, C., Boute, Odile, Colson, C., Petit, Florence, Legendre, M., Naudion, S., Rooryck, C., Prouteau, C., Colin, E., Guichet, A., Ziegler, A., Bonneau, D., Morel, G., Fradin, M., Lavillaureix, A., Quelin, C., Pasquier, L., Odent, S., Vera, G., Goldenberg, A., Guerrot, A. M., Brehin, A. C., Putoux, A., Attia, J., Abel, C., Blanchet, P., Wells, C. F., Deiller, C., Nizon, M., Mercier, S., Vincent, M., Isidor, B., Amiel, J., Dard, R., Godin, M., Gruchy, N., Jeanne, M., Schaeffer, E., Maillard, P. Y., Payet, F., Jacquemont, M. L., Francannet, C., Sigaudy, S., Bergot, M., Tisserant, E., Ascencio, M. L., Binquet, C., Duffourd, Y., Philippe, C., Faivre, L., Thauvin-Robinet, C.

المساهمون: Université de Lille, CHU Lille, Génétique des anomalies du développement (CTM UMR 1231) GAD, FHU TRANSLAD (CHU de Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Laboratoire de cytogénétique (CHU de Dijon), Service de Gynécologie Obstétrique, Médecine Foetale et Stérilité Conjugale - Chirurgie Gynécologie et Oncologique CHU de Dijon, Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, CHU Bordeaux, Département de Biochimie et Génétique Angers, Centre de référence Maladies Rares CLAD-Ouest Rennes, Service de génétique Rouen, Hospices Civils de Lyon HCL, Département de génétique médicale, maladies rares et médecine personnalisée CHRU Montpellier, Service de génétique médicale Montpellier, Centre hospitalier universitaire de Nantes CHU Nantes, Institut du Thorax Nantes, Service de Génétique Médicale CHU Necker, Imagine - Institut des maladies génétiques (IHU) Imagine - U1163, Centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS Poissy, Département de biologie de la reproduction et de gynécologie CHIPS, Poissy, Service de Génétique CHU Caen, Service de génétique Tours, Imaging, Brain & Neuropsychiatry iBraiN, Hôpital de Hautepierre Strasbourg, Service de Génétique CHU La Réunion, Service de Génétique Médicale CHU Clermont-Ferrand, Département de génétique médicale Hôpital de la Timone - APHM, Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques CIC-EC

وصف الملف: application/pdf

العلاقة: Frontiers in Genetics; Front Genet; http://hdl.handle.net/20.500.12210/84125Test

الإتاحة: https://doi.org/20.500.12210/84125Test
https://hdl.handle.net/20.500.12210/84125Test

المؤلفون: Scala, M, Nishikawa, M, Ito, H, Tabata, H, Khan, T, Accogli, A, Davids, L, Ruiz, A, Chiurazzi, P, Cericola, G, Schulte, B, Monaghan, KG, Begtrup, A, Torella, A, Pinelli, M, Denomme-Pichon, AS, Vitobello, A, Racine, C, Mancardi, MM, Kiss, C, Guerin, A, Wu, W, Vila, EG, Mak, BC, Martinez-Agosto, JA, Gorin, MB, Duz, B, Bayram, Y, Carvalho, CMB, Vengoechea, JE, Chitayat, D, Tan, TY, Callewaert, B, Kruse, B, Bird, LM, Faivre, L, Zollino, M, Biskup, S, Striano, P, Nigro, V, Severino, M, Capra, V, Costain, G, Nagata, K-I

العلاقة: pii: 6628315; Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, P., Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. S., Vitobello, A., Racine, C., Mancardi, M. M. ,. Nagata, K. -I. (2022). Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. BRAIN, 145 (9), pp.3308-3327. https://doi.org/10.1093/brain/awac106Test.; http://hdl.handle.net/11343/318076Test

الإتاحة: https://doi.org/10.1093/brain/awac106Test
http://hdl.handle.net/11343/318076Test

المؤلفون: Witteman H. O., Ndjaboue R., Vaisson G., Chipenda Dansokho S., Arnold B., Bridges J., Comeau S., Fagerlin A., Gavaruzzi T., Marcoux M., Pieterse A., Pignone M., Provencher T., Racine C., Regier D., Rochefort-Brihay C., Thokala P., Weernink M., White D., Wills C., Jansen J.

المساهمون: Witteman, H. O., Ndjaboue, R., Vaisson, G., Chipenda Dansokho, S., Arnold, B., Bridges, J., Comeau, S., Fagerlin, A., Gavaruzzi, T., Marcoux, M., Pieterse, A., Pignone, M., Provencher, T., Racine, C., Regier, D., Rochefort-Brihay, C., Thokala, P., Weernink, M., White, D., Wills, C., Jansen, J.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000700921400007; volume:41; issue:7; firstpage:801; lastpage:820; numberofpages:20; journal:MEDICAL DECISION MAKING; http://hdl.handle.net/11577/3401776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115762325

الإتاحة: https://doi.org/10.1177/0272989X211037946Test
http://hdl.handle.net/11577/3401776Test

المؤلفون: York, M.K., Farace, E., Pollak, L., Floden, D., Lin, G., Wyman-Chick, K., Bobholz, J., Palmese, C.A., Racine, C., Tran, B., Turner, T.H., Jimenez-Shahed, J.

المصدر: Parkinsonism & Related Disorders ; volume 86, page 135-138 ; ISSN 1353-8020

مصطلحات موضوعية: Neurology (clinical), Geriatrics and Gerontology, Neurology

الإتاحة: https://doi.org/10.1016/j.parkreldis.2021.04.029Test
https://api.elsevier.com/content/article/PII:S1353802021001620?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1353802021001620?httpAccept=text/plainTest

المؤلفون: Zlotnick, D., Kalkanis, S. N., Quinones-Hinojosa, A., Chung, K., Linskey, M. E., Jensen, R. L., DeMonte, F., Barker, F. G., Racine, C. A., Berger, M. S., Black, P. M., Cusimano, M., Sekhar, L. N., Parsa, A., Aghi, M., McDermott, Michael W.

المصدر: Journal of Neuro-Oncology. 99(3)

مصطلحات موضوعية: Medicine & Public Health, Neurology, Oncology, Meningioma, Intracranial surgery, Radiotherapy, Quality of life

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7k3903b2Test

المؤلفون: Osterkamp, T. E., Viereck, L., Shur, Y., Jorgenson, M. T., Racine, C., Doyle, A., Boone, R. D.

المصدر: Arctic, Antarctic, and Alpine Research, 2000 Aug 01. 32(3), 303-315.

الوصول الحر: https://www.jstor.org/stable/1552529Test

المؤلفون: Scala M., Nishikawa M., Ito H., Tabata H., Khan T., Accogli A., Davids L., Ruiz A., Chiurazzi P., Cericola G., Schulte B., Monaghan K. G., Begtrup A., Torella A., Pinelli M., Denomme-Pichon A. -S., Vitobello A., Racine C., Mancardi M. M., Kiss C., Guerin A., Wu W., Vila E. G., Mak B. C., Martinez-Agosto J. A., Gorin M. B., Duz B., Bayram Y., Carvalho C. M. B., Vengoechea J. E., Chitayat D., Tan T. Y., Callewaert B., Kruse B., Bird L. M., Faivre L., Zollino M., Biskup S., Striano P., Nigro V., Severino M., Capra V., Costain G., Nagata K. -I., Brown G., Butte M. J., Dell'Angelica E. C., Dorrani N., Douine E. D., Fogel B. L., Gutierrez I., Huang A., Krakow D., Lee H., Loo S. K., Martin M. G., McGee E., Nelson S. F., Nieves-Rodriguez S., Palmer C. G. S., Papp J. C., Parker N. H., Renteria G., Sinsheimer J. S., Wan J., Wang L. -K., Perry K. W., Brunetti-Pierri N., Casari G., Cappuccio G., Musacchia F., Mutarelli M., Carrella D., Vitiello G., Parenti G., Leuzzi V., Selicorni A., Maitz S., Banfi S., Montomoli M., Milani D., Romano C., Tummolo A., De Brasi D., Coppola A., Santoro C., Peron A., Pantaleoni C., Castello R., D'Arrigo S.

المساهمون: Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, P., Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. -S., Vitobello, A., Racine, C., Mancardi, M. M., Kiss, C., Guerin, A., Wu, W., Vila, E. G., Mak, B. C., Martinez-Agosto, J. A., Gorin, M. B., Duz, B., Bayram, Y., Carvalho, C. M. B., Vengoechea, J. E., Chitayat, D., Tan, T. Y., Callewaert, B., Kruse, B., Bird, L. M., Faivre, L., Zollino, M., Biskup, S., Striano, P., Nigro, V., Severino, M., Capra, V., Costain, G., Nagata, K. -I., Brown, G., Butte, M. J., Dell'Angelica, E. C., Dorrani, N., Douine, E. D., Fogel, B. L., Gutierrez, I., Huang, A., Krakow, D., Lee, H., Loo, S. K., Martin, M. G., Mcgee, E., Nelson, S. F., Nieves-Rodriguez, S., Palmer, C. G. S., Papp, J. C., Parker, N. H., Renteria, G., Sinsheimer, J. S., Wan, J., Wang, L. -K., Perry, K. W., Brunetti-Pierri, N., Casari, G., Cappuccio, G., Musacchia, F., Mutarelli, M., Carrella, D., Vitiello, G., Parenti, G., Leuzzi, V., Selicorni, A., Maitz, S., Banfi, S., Montomoli, M., Milani, D., Romano, C., Tummolo, A., De Brasi, D., Coppola, A., Santoro, C., Peron, A., Pantaleoni, C., Castello, R., D'Arrigo, S.

مصطلحات موضوعية: axon guidance, brain development, neuronal migration, RAC3, small GTPase

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000826999200001; volume:145; issue:9; firstpage:3308; lastpage:3327; numberofpages:20; journal:BRAIN; https://hdl.handle.net/20.500.11768/161978Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85138445019

الإتاحة: https://doi.org/20.500.11768/16197810.1093/brain/awac106Test
https://hdl.handle.net/20.500.11768/161978Test

المؤلفون: Dingemans, A.J.M., Truijen, K.M.G., Kim, J.H., Alaçam, Z., Faivre, L., Collins, K.M., Gerkes, E.H., Haelst, M. van, Laar, I. van de, Lindstrom, K., Nizon, M., Pauling, J., Heropolitańska-Pliszka, E., Plomp, A.S., Racine, C., Sachdev, R., Sinnema, M., Skranes, J., Veenstra-Knol, Hermine E., Verberne, E.A., Vulto-van Silfhout, A.T., Wilsterman, M.E., Ahn, E.E., Vries, B.B.A. de, Vissers, L.E.L.M.

المصدر: European Journal of Human Genetics, 30, 3, pp. 271-281

مصطلحات موضوعية: Cognitive artificial intelligence, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl/handle/2066/248367Test; https://doi.org/10.1038/s41431-021-00960-4Test

الإتاحة: https://doi.org/10.1038/s41431-021-00960-4Test
https://repository.ubn.ru.nl/handle/2066/248367Test

المؤلفون: Duclaux-Loras, R., Lebreton, C., Berthelet, J., Charbit-Henrion, F., Nicolle, O., Revenu de Courtils, C., Waich, S., Valovka, T., Khiat, A., Rabant, M., Racine, C., Guerrera, I. C., Baptista, J., Mahe, M. M., Hess, M. W., Durel, B., Lefort, N., Banal, C., Parisot, M., Talbotec, C., Lacaille, F., Ecochard-Dugelay, E., Demir, A. M., Vogel, G. F., Faivre, L., Rodrigues, A., Fowler, D., Janecke, A. R., Müller, T., Huber, L. A., Rodrigues-Lima, F., Ruemmele, F. M., Uhlig, H. H., Del Bene, F., Michaux, G., Cerf-Bensussan, N., Parlato, M.

مصطلحات موضوعية: Animals, Caco-2 Cells, Diarrhea, Infantile/metabolism/pathology, Facies, Fetal Growth Retardation, Hair Diseases, Humans, Infant, Intracellular Signaling Peptides and Proteins/metabolism, Malabsorption Syndromes/metabolism, Microvilli/genetics/pathology, Mucolipidoses/genetics/metabolism/pathology, Myosin Type V/genetics/metabolism, Phenotype, Zebrafish/genetics/metabolism, Epithelial transport of ions and water, Gastroenterology

العلاقة: https://doi.org/10.1172/JCI154997Test; J Clin Invest. 2022 May 16;132(10):e154997. doi:10.1172/JCI154997.; https://rde.dspace-express.com/handle/11287/622683Test; The Journal of clinical investigation; PMC9106349

الإتاحة: https://doi.org/10.1172/jci154997Test
https://doi.org/10.1172/JCI154997Test
https://rde.dspace-express.com/handle/11287/622683Test

المؤلفون: Rioux, P., Chaumon, M., Demers, A., Fitzback-Fortin, H., Kübel, S., Lebrun, C., Mendoza-Duran, E., Micillo, L., Racine, C., Thibault, N., van Wassenhove, V., Grondin, S.

المصدر: Timing & Time Perception

العلاقة: info:eu-repo/semantics/altIdentifier/urn/https://brill.com/view/journals/time/10/4/article-p326_003.xmlTest; http://hdl.handle.net/21.11116/0000-000D-9D69-DTest

الإتاحة: https://doi.org/10.1163/22134468-bja10063Test
http://hdl.handle.net/21.11116/0000-000D-9D69-DTest