المؤلفون: Cordovado, A., Schaettin, M., Jeanne, M., Panasenkava, V., Denomme-Pichon, A. -S., Keren, B., Mignot, C., Doco-Fenzy, M., Rodan, L., Ramsey, K., Narayanan, V., Jones, J. R., Prijoles, E. J., Mitchell, W. G., Ozmore, J. R., Juliette, K., Torti, E., Normand, E. A., Granger, L., Petersen, A. K., Au, M. G., Matheny, J. P., Phornphutkul, C., Chambers, M. -K., Fernandez-Ramos, J. -A., Lopez-Laso, E., Kruer, M. C., Bakhtiari, S., Zollino, Marcella, Morleo, M., Marangi, Giuseppe, Mei, D., Pisano, T., Guerrini, R., Louie, R. J., Childers, A., Everman, D. B., Isidor, B., Audebert-Bellanger, S., Odent, S., Bonneau, D., Gilbert-Dussardier, B., Redon, R., Bezieau, S., Laumonnier, F., Stoeckli, E. T., Toutain, A., Vuillaume, M. -L., Zollino M. (ORCID:0000-0003-4871-9519), Marangi G. (ORCID:0000-0002-6898-8882)

مصطلحات الفهرس: SEMA6B, Intellectual disability, Settore MED/03 - GENETICA MEDICA, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/232271
info:eu-repo/semantics/altIdentifier/pmid/35604360
info:eu-repo/semantics/altIdentifier/wos/WOS:000814818300001
volume:31
issue:19
firstpage:3325
lastpage:3340
numberofpages:16
issueyear:2022
journal:HUMAN MOLECULAR GENETICS ONLINE

المؤلفون: Whalen, S, Shaw, M, Mignot, C, Héron, D, Bastaraud, SC, Walti, CC, Liebelt, J, Elmslie, F, Yap, P, Hurst, J, Forsythe, E, Kirmse, B, Ozmore, J, Spinelli, AM, Calabrese, O, de Villemeur, TB, Tabet, AC, Levy, J, Guet, A, Kossorotoff, M, Kamien, B, Morton, J, McCabe, A, Brischoux-Boucher, E, Raas-Rothschild, A, Pini, A, Carroll, R, Hartley, JN, Canada Consortium, Care4Rare, Frosk, P, Slavotinek, A, Truxal, K, Jennifer, C, Dheedene, Annelies, Cui, H, Kumar, V, Thomson, G, Riccardi, F, Gecz, J, Villard, L

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS ; ISSN: 1018-4813 ; ISSN: 1476-5438

مصطلحات موضوعية: Medicine and Health Sciences, ENDOPLASMIC-RETICULUM, CENTRAL HYPOMYELINATION, CONTIGUOUS DELETION, MEDICAL GENETICS, AMERICAN-COLLEGE, BAP31, PHENOTYPE, DYSTONIA, BCAP31, ABCD1

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8701413; http://hdl.handle.net/1854/LU-8701413; http://dx.doi.org/10.1038/s41431-021-00821-0; https://biblio.ugent.be/publication/8701413/file/01H16N06XBE2JDR7TKS3DGJ7R9

الاتاحة: https://biblio.ugent.be/publication/8701413
http://hdl.handle.net/1854/LU-8701413
https://doi.org/10.1038/s41431-021-00821-0
https://biblio.ugent.be/publication/8701413/file/01H16N06XBE2JDR7TKS3DGJ7R9

المؤلفون: Tan, T. Y., Aftimos, S., Slavotinek, A., Hogue, J., Moeschler, J. B., Ozmore, J., Widmer, R., Savarirayan, R., Peters, G., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E. P., Love, D., Ronan, A., Darmanian, A.

المساهمون: The University of Newcastle. Faculty of Health, School of Medicine and Public Health

مصطلحات موضوعية: MAPT, disorders, genes

Relation: Journal of Medical Genetics Vol. 46, Issue 7, p. 480-489; uon:8287; http://hdl.handle.net/1959.13/917364

الاتاحة: http://hdl.handle.net/1959.13/917364

المؤلفون: Kirk, EP, Tan, TY, Aftimos, S, Worgan, L, Susman, R, Wilson, M, Ghedia, S, Love, D, Ronan, A, Darmanian, A, Slavotinek, A, Hogue, J, Moeschler, JB, Ozmore, J, Widmer, R, Savarirayan, R, Peters, G

مصطلحات موضوعية: Abnormalities, Multiple - Diagnosis - Genetics - Pathology, Child, Preschool, Chromosomes, Human, Pair 17, Comparative Genomic Hybridization, Female, Gene Deletion, Humans, Infant, Male, Oligonucleotide Array Sequence Analysis, Phenotype, Syndrome

Relation: Journal of Medical Genetics; http://www.scopus.com/mlt/select.url?eid=2-s2.0-67650446211&selection=ref&src=s&origin=recordpage; Journal Of Medical Genetics, 2009, v. 46 n. 7, p. 480-489; 5781611; 489; WOS:000267603600011; eid_2-s2.0-67650446211; 480; http://hdl.handle.net/10722/170417; 46

الاتاحة: https://doi.org/10.1136/jmg.2008.065391
http://hdl.handle.net/10722/170417

المؤلفون: Zollino M., Marangi G.

المساهمون: Cordovado, A., Schaettin, M., Jeanne, M., Panasenkava, V., Denomme-Pichon, A. -S., Keren, B., Mignot, C., Doco-Fenzy, M., Rodan, L., Ramsey, K., Narayanan, V., Jones, J. R., Prijoles, E. J., Mitchell, W. G., Ozmore, J. R., Juliette, K., Torti, E., Normand, E. A., Granger, L., Petersen, A. K., Au, M. G., Matheny, J. P., Phornphutkul, C., Chambers, M. -K., Fernandez-Ramos, J. -A., Lopez-Laso, E., Kruer, M. C., Bakhtiari, S., Zollino, Marcella, Morleo, M., Marangi, Giuseppe, Mei, D., Pisano, T., Guerrini, R., Louie, R. J., Childers, A., Everman, D. B., Isidor, B., Audebert-Bellanger, S., Odent, S., Bonneau, D., Gilbert-Dussardier, B., Redon, R., Bezieau, S., Laumonnier, F., Stoeckli, E. T., Toutain, A., Vuillaume, M. -L.

مصطلحات موضوعية: SEMA6B, Intellectual disability, Settore MED/03 - GENETICA MEDICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/35604360; info:eu-repo/semantics/altIdentifier/wos/WOS:000814818300001; volume:31; issue:19; firstpage:3325; lastpage:3340; numberofpages:16; issueyear:2022; journal:HUMAN MOLECULAR GENETICS ONLINE; https://hdl.handle.net/10807/232271; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139377346

الاتاحة: https://hdl.handle.net/10807/232271
https://doi.org/10.1093/hmg/ddac114