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1دورية أكاديمية
المؤلفون: van Eyk, C. L., Webber, D. L., Minoche, A. E., Pérez-Jurado, L. A., Corbett, M. A., Gardner, A. E., Berry, J. G., Harper, K., MacLennan, A. H., Gecz, J.
المساهمون: Department of Health | National Health and Medical Research Council, Cerebral Palsy Alliance Research Foundation, Hospital Research Foundation
المصدر: npj Genomic Medicine ; volume 6, issue 1 ; ISSN 2056-7944
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology
الإتاحة: https://doi.org/10.1038/s41525-021-00238-0Test
https://www.nature.com/articles/s41525-021-00238-0.pdfTest
https://www.nature.com/articles/s41525-021-00238-0Test -
2دورية أكاديمية
المؤلفون: Matalonga, L, Laurie, S, Papakonstantinou, A, Piscia, D, Mereu, E, Bullich, G, Thompson, R, Horvath, R, Pérez-Jurado, L, Riess, O, Gut, I, van Ommen, G-J, Lochmüller, H, Beltran, S, RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Con, .
المصدر: The Journal of Molecular Diagnostics , 22 (9) pp. 1205-1215. (2020)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10109170/1/1-s2.0-S1525157820303718-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10109170Test/
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3دورية أكاديمية
المؤلفون: Cospain, A., Rivera-Barahona, A., Dumontet, E., Gener, B., Bailleul-Forestier, I., Meyts, I., Jouret, G., Isidor, B., Brewer, C., Wuyts, W., Moens, L., Delafontaine, S., Keung Lam, W. W., Van Den Bogaert, K., Boogaerts, A., Scalais, E., Besnard, T., Cogne, B., Guissard, C., Rollier, P., Carre, W., Bouvet, R., Tarte, K., Gómez-Carmona, R., Lapunzina, P., Odent, S., Faoucher, M., Dubourg, C., Ruiz-Pérez, V. L., Devriendt, K., Pasquier, L., Pérez-Jurado, L. A.
مصطلحات موضوعية: Humans, Scalp/abnormalities/metabolism, Autism Spectrum Disorder/genetics, HEK293 Cells, Transcription Factor AP-1/genetics, Exons/genetics, Ectodermal Dysplasia/genetics, Neurodevelopmental Disorders/genetics, RNA, Messenger, Fos-Related Antigen-2/genetics, AP-1 complex, Adams-Oliver syndrome, Aplasia cutis congenita of scalp, Enamel hypoplasia, FOSL2, qGenomics Laboratories
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S1098-3600Test(22)00937-6; Genet Med. 2022 Dec;24(12):2475-2486. doi:10.1016/j.gim.2022.09.002. Epub 2022 Oct 4.; https://rde.dspace-express.com/handle/11287/622737Test; Genetics in medicine
الإتاحة: https://doi.org/10.1016/j.gim.2022.09.002Test
https://rde.dspace-express.com/handle/11287/622737Test -
4دورية أكاديمية
المؤلفون: MacLennan, A. H. (Alastair H.), Lewis, S. (Sara), Moreno-De-Luca, A. (Andres), Fahey, M. (Michael), Leventer, R. J. (Richard J.), McIntyre, S. (Sarah), Ben-Pazi, H. (Hilla), Corbett, M. (Mark), Wang, X. (Xiaoyang), Baynam, G. (Gareth), Fehlings, D. (Darcy), Kurian, M. A. (Manju A.), Zhu, C. (Changlian), Himmelmann, K. (Kate), Smithers-Sheedy, H. (Hayley), Wilson, Y. (Yana), Ocaña, C. S. (Carlos Santos), van Eyk, C. (Clare), Badawi, N. (Nadia), Wintle, R. F. (Richard F.), Jacobsson, B. (Bo), Amor, D. J. (David J.), Mallard, C. (Carina), Pérez-Jurado, L. A. (Luis A.), Hallman, M. (Mikko), Rosenbaum, P. J. (Peter J.), Kruer, M. C. (Michael C.), Gecz, J. (Jozef)
مصطلحات موضوعية: causation, cerebral palsy, clinical definition, genomics
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Akin L., Rizzoti K., Gregory L. C., Corredor B., Le Quesne Stabej P., Williams H., Buonocore F., Mouilleron S., Capra V., McGlacken-Byrne S. M., Martos-Moreno G. A., Azmanov D. N., Kendirci M., Kurtoglu S., Suntharalingham J. P., Galichet C., Gustincich S., Tasic V., Achermann J. C., Accogli A., Filipovska A., Tuilpakov A., Maghnie M., Gucev Z., Gonen Z. B., Perez-Jurado L. A., Robinson I., Lovell-Badge R., Argente J., Dattani M. T.
المساهمون: Akin, L., Rizzoti, K., Gregory, L. C., Corredor, B., Le Quesne Stabej, P., Williams, H., Buonocore, F., Mouilleron, S., Capra, V., McGlacken-Byrne, S. M., Martos-Moreno, G. A., Azmanov, D. N., Kendirci, M., Kurtoglu, S., Suntharalingham, J. P., Galichet, C., Gustincich, S., Tasic, V., Achermann, J. C., Accogli, A., Filipovska, A., Tuilpakov, A., Maghnie, M., Gucev, Z., Gonen, Z. B., Perez-Jurado, L. A., Robinson, I., Lovell-Badge, R., Argente, J., Dattani, M. T.
مصطلحات موضوعية: Growth hormone deficiency, Hypopituitarism, Minor spliceosome, Primary ovarian insufficiency, U12-type spliceosome
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34906446; info:eu-repo/semantics/altIdentifier/wos/WOS:000797597400011; volume:24; firstpage:384; lastpage:397; numberofpages:14; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11567/1070296Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122915228
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6دورية أكاديمية
المصدر: Research in Developmental Disabilities: A Multidisciplinary Journal. Mar-Apr 2011 32(2):643-652.
تمت مراجعته من قبل الزملاء: Y
Page Count: 10
الواصفات: Check Lists, Delinquency, Aggression, Mental Retardation, Intelligence Quotient, Child Behavior, Etiology, Gender Differences, Depression (Psychology), Anxiety, Genetic Disorders, Neurological Impairments, Developmental Disabilities, Cognitive Processes, Behavior Problems, Psychopathology, Symptoms (Individual Disorders)
معرفات التقييم و الدراسة: Child Behavior Checklist
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7دورية أكاديمية
المؤلفون: Makrythanasis, P, van Bon, BW, Steehouwer, M, Rodriguez-Santiago, B, Simpson, M, Dias, P, Anderlid, BM, Arts, P, Bhat, M, Augello, B, Biamino, E, Bongers, EMHF, del Campo, M, Cordeiro, I, Cueto-Gonzalez, A, Cusco, I, Deshpande, C, Frysira, E, Izatt, L, Flores, R, Galan, E, Gener, B, Gilissen, C, Granneman, SM, Hoyer, J, Yntema, HG, Kets, CM, Koolen, DA, Marcelis, CL, Medeira, A, Micale, L, Mohammed, S, de Munnik, SA, Nordgren, A, Psoni, S, Reardon, W, Revencu, N, Roscioli, T, Ruiterkamp-Versteeg, M, Santos, H, Schoumans, J, Schuurs-Hoeijmakers, JHM, Silengo, MC, Toledo, L, Vendrell, T, van der Burgt, I, van Lier, B, Zweier, C, Reymond, A, Trembath, RC, Perez-Jurado, L, Dupont, J, de Vries, BBA, Brunner, HG, Veltman, JA, Merla, G, Antonarakis, SE, Hoischen, A
المصدر: Clinical genetics. 84(6):539-545
مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Neurovetenskaper, Medicinsk genetik
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8دورية أكاديمية
المؤلفون: Guimier, A., Pontual, L., Braddock, S. R., Torti, E., Pérez-Jurado, L. A., Muñoz-Cabello, P., Arumí, M., Monaghan, K. G., Lee, H., Wang, L. K., Pluym, I. D., Lynch, S. A., Stals, K., Ellard, S., Muller, C., Houyel, L., Cohen, L., Lyonnet, S., Bajolle, F., Amiel, J., Gordon, C. T.
العلاقة: Hum Mol Genet. 2022 Apr 9:ddac084. doi:10.1093/hmg/ddac084.; https://rde.dspace-express.com/handle/11287/622570Test; Human molecular genetics
الإتاحة: https://doi.org/10.1093/hmg/ddac084Test
https://rde.dspace-express.com/handle/11287/622570Test -
9
المؤلفون: Luque J, Mendes I, Gomez B, Morte B, de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Perez-Jurado L, Montoliu L, Carracedo A, Millan J, Webb S, Palau F, Lapunzina P, PALLARDO F, CIBERER Network
المصدر: CLINICAL GENETICS
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instnameمصطلحات موضوعية: research network, new therapeutic approaches, rare diseases, genetics, novel genes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::f1b7d6a693904673508197f583a1c4e1Test
https://www.fundanet.incliva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16729Test -
10دورية أكاديمية
المؤلفون: Homs, A, Codina-Solà, M, Rodríguez-Santiago, B, Villanueva, C M, Monk, D, Cuscó, I, Pérez-Jurado, L A
المصدر: Translational Psychiatry ; volume 6, issue 7, page e855-e855 ; ISSN 2158-3188
مصطلحات موضوعية: Biological Psychiatry, Cellular and Molecular Neuroscience, Psychiatry and Mental health
الإتاحة: https://doi.org/10.1038/tp.2016.120Test
https://www.nature.com/articles/tp2016120.pdfTest
https://www.nature.com/articles/tp2016120Test
