المؤلفون: Marcogliese P. C., Deal S. L., Andrews J., Harnish J. M., Bhavana V. H., Graves H. K., Jangam S., Luo X., Liu N., Bei D., Chao Y. -H., Hull B., Lee P. -T., Pan H., Bhadane P., Huang M. -C., Longley C. M., Chao H. -T., Chung H. -L., Haelterman N. A., Kanca O., Manivannan S. N., Rossetti L. Z., German R. J., Gerard A., Schwaibold E. M. C., Fehr S., Guerrini R., Vetro A., England E., Murali C. N., Barakat T. S., van Dooren M. F., Wilke M., van Slegtenhorst M., Lesca G., Sabatier I., Chatron N., Brownstein C. A., Madden J. A., Agrawal P. B., Keren B., Courtin T., Perrin L., Brugger M., Roser T., Leiz S., Mau-Them F. T., Delanne J., Sukarova-Angelovska E., Trajkova S., Rosenhahn E., Strehlow V., Platzer K., Keller R., Pavinato L., Brusco A., Rosenfeld J. A., Marom R., Wangler M. F., Yamamoto S.

المساهمون: Marcogliese P.C., Deal S.L., Andrews J., Harnish J.M., Bhavana V.H., Graves H.K., Jangam S., Luo X., Liu N., Bei D., Chao Y.-H., Hull B., Lee P.-T., Pan H., Bhadane P., Huang M.-C., Longley C.M., Chao H.-T., Chung H.-L., Haelterman N.A., Kanca O., Manivannan S.N., Rossetti L.Z., German R.J., Gerard A., Schwaibold E.M.C., Fehr S., Guerrini R., Vetro A., England E., Murali C.N., Barakat T.S., van Dooren M.F., Wilke M., van Slegtenhorst M., Lesca G., Sabatier I., Chatron N., Brownstein C.A., Madden J.A., Agrawal P.B., Keren B., Courtin T., Perrin L., Brugger M., Roser T., Leiz S., Mau-Them F.T., Delanne J., Sukarova-Angelovska E., Trajkova S., Rosenhahn E., Strehlow V., Platzer K., Keller R., Pavinato L., Brusco A., Rosenfeld J.A., Marom R., Wangler M.F., Yamamoto S.

مصطلحات موضوعية: autism spectrum disorder, Drosophila melanogaster, functional genomic, GLRA2, GluClalpha, humanization, missense variant, rare genetic disease, T2A-GAL4, TG4, undiagnosed disease, Animal, Genetic Predisposition to Disease, Human, Autistic Disorder, Drosophila, Neurodevelopmental Disorder, Receptors, Glycine

Relation: info:eu-repo/semantics/altIdentifier/pmid/35294868; info:eu-repo/semantics/altIdentifier/wos/WOS:000772210700003; volume:38; issue:11; firstpage:110517; lastpage:110532; numberofpages:16; journal:CELL REPORTS; http://hdl.handle.net/2318/1854165; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126320885; https://www.cell.com/cell-reports/fulltext/S2211-1247(22)00253-4?_returnURL=https://linkinghub.elsevier.com/retrieve/pii/S2211124722002534?showall=true

الاتاحة: http://hdl.handle.net/2318/1854165
https://doi.org/10.1016/j.celrep.2022.110517
https://www.cell.com/cell-reports/fulltext/S2211-1247(22)00253-4?_returnURL=https://linkinghub.elsevier.com/retrieve/pii/S2211124722002534?showall=true

المؤلفون: Vera, G, Sorlin, A, Delplancq, G, Lecoquierre, F, Brasseur-Daudruy, M, Petit, F, Smol, T, Ziegler, A, Bonneau, D, Colin, E, Mercier, S, Cogné, B, Bézieau, S, Edery, P, Lesca, G, Chatron, N, Sabatier, I, Duban-Bedu, B, Colson, C, Piton, A, Durand, B, Capri, Y, Perrin, L, Wiesener, A, Zweier, C, Maroofian, R, Carroll, CJ, Galehdari, H, Mazaheri, N, Callewaert, B, Giulianno, F, Zaafrane-Khachnaoui, K, Buchert-Lo, R, Haack, T, Magg, J, Rieß, A, Blandfort, M, Waldmüller, S, Horber, V, Leonardi, E, Polli, R, Turolla, L, Murgia, A, Frebourg, T, Lebre, AS, Nicolas, G, Saugier-Veber, P, Guerrot, AM

المصدر: European Journal of Medical Genetics , 63 (10) , Article 104004. (2020)

مصطلحات موضوعية: Developmental delay, GATAD2B, Intellectual disability, Next-generation sequencing, Adolescent, Adult, Brain, Child, Preschool, Face, Female, GATA Transcription Factors, High-Throughput Nucleotide Sequencing, Humans, Infant, Magnetic Resonance Imaging, Male, Megalencephaly, Muscle Hypotonia, Neurodevelopmental Disorders, Phenotype, Pregnancy, Repressor Proteins, Sequence Deletion, Speech Disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10146514/1/1-s2.0-S1769721220305073-am.pdf; https://discovery.ucl.ac.uk/id/eprint/10146514/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10146514/1/1-s2.0-S1769721220305073-am.pdf
https://discovery.ucl.ac.uk/id/eprint/10146514/

المؤلفون: Milleret-Pignot, C., Panagiotakaki, E., De Bellescize, J., Toulouse, J., Sabatier, I., Carneiro, M., Ruello, C., Nicolino, M., Arzimanoglou, A.

المصدر: Neuropediatrics ; Abstracts of the 47th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique) ; ISSN 1439-1899

الاتاحة: http://dx.doi.org/10.1055/s-0039-1685427
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0039-1685427

المؤلفون: Jean-Marcais, N., Olson, H. E., Yang, E., Heron, D., Tatton-Brown, K., van der Zwaag, P. A., Bijlsma, E. K., Krock, B. L., Backer, E., Kamsteeg, E., Sinnema, M., Reijnders, M. R. F., Bearden, D., Lunsing, R. J., Burglen, L., Lesca, G., Smith, L. A., Sheidley, B., Pearl, P. L., El Achkar, C. Moufawad, Poduri, A., Skraban, C. M., Nesbitt, A. I., van de Putte, D. E. Fransen, Ruivenkamp, C. A. L., Rump, P., Sabatier, I., Sweetser, D. A., Waxler, J. L., Tarpinian, J., Wierenga, K. J., Donadieu, J., Narayanan, V., Ramsey, K. M., Nava, C., Lelieveld, S. H., Schuurs-Hoeijmakers, J., Brunner, H. G., Keren, B., Mau-Them, F. Tran, Thevenon, J., Faivre, L., Thomas, G., Thauvin-Robinet, C.

المصدر: European Journal of Human Genetics, 27, 853-854. Nature Publishing Group

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::d0114cea4f687e72dbc0ec2faa82754e
https://research.rug.nl/en/publications/0b4fba38-3f4b-40f5-9cd4-f1696ea47a29

المؤلفون: Beuriat, P.A., Poirot, I., Hameury, F., Demede, D., Rousselle, C., Sabatier, I., Szathmari, M., Di Rocco, F., Mottolese, C.

المصدر: Neurochirurgie ; volume 65, issue 2-3, page 141 ; ISSN 0028-3770

الاتاحة: http://dx.doi.org/10.1016/j.neuchi.2019.03.112
https://api.elsevier.com/content/article/PII:S0028377019301390?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0028377019301390?httpAccept=text/plain

المؤلفون: Olson, H.E., Jean-Marcais, N., Yang, E., Heron, D., Tatton-Brown, K., Zwaag, P.A. van der, Bijlsma, E.K., Krock, B.L., Backer, E., Kamsteeg, E.J., Sinnema, M., Reijnders, M.R.F., Bearden, D., Begtrup, A., Telegrafi, A., Lunsing, R.J., Burglen, L., Lesca, G., Cho, M.T., Smith, L.A., Sheidley, B.R., Achkar, C.M. el, Pearl, P.L., Poduri, A., Skraban, C.M., Tarpinian, J., Nesbitt, A.I., Putte, D.E.F. van de, Ruivenkamp, C.A.L., Rump, P., Chatron, N., Sabatier, I., Bellescize, J. de, Guibaud, L., Sweetser, D.A., Waxler, J.L., Wierenga, K.J., Donadieu, J., Narayanan, V., Ramsey, K.M., Nava, C., Riviere, J.B., Vitobello, A., Mau-Them, F.T., Philippe, C., Bruel, A.L., Duffourd, Y., Thomas, L., Lelieveld, S.H., Schuurs-Hoeijmakers, J., Brunner, H.G., Keren, B., Thevenon, J., Faivre, L., Thomas, G., Thauvin-Robinet, C., DDD Study, C4RCD Res Grp

المصدر: American Journal of Human Genetics

وصف الملف: application/pdf

Relation: https://www.sciencedirect.com/science/article/pii/S0002929718300946?via=ihub; lumc-id: 57129076; https://hdl.handle.net/1887/79366

الاتاحة: https://hdl.handle.net/1887/79366
https://www.sciencedirect.com/science/article/pii/S0002929718300946?via=ihub
https://doi.org/10.1016/j.ajhg.2018.03.005

المؤلفون: Beuriat, P.A., Szathmari, A., Rousselle, C., Sabatier, I., Di Rocco, F., Mottolese, C.

المصدر: Neurochirurgie ; volume 64, issue 3, page 276-277 ; ISSN 0028-3770

الاتاحة: http://dx.doi.org/10.1016/j.neuchi.2018.05.176
https://api.elsevier.com/content/article/PII:S0028377018302431?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0028377018302431?httpAccept=text/plain

المؤلفون: Szathmari, A., Beuriat, P.A., Di Rocco, F., Sabatier, I., Rousselle, C., Mottolèse, C.

المصدر: Neurochirurgie ; volume 64, issue 3, page 266 ; ISSN 0028-3770

الاتاحة: http://dx.doi.org/10.1016/j.neuchi.2018.05.143
https://api.elsevier.com/content/article/PII:S0028377018302108?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0028377018302108?httpAccept=text/plain