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

المؤلفون: Huckert, M, Stoetzel, C, Morkmued, S, Laugel-Haushalter, V, Geoffroy, V, Muller, J, Clauss, F, Prasad, MK, Obry, F, Raymond, JL, Switala, M, Alembik, Y, Soskin, S, Mathieu, E, Hemmerlé, J, Weickert, JL, Dabovic, BB, Rifkin, DB, Dheedene, Annelies, Boudin, E, Caluseriu, O, Cholette, MC, Mcleod, R, Antequera, R, Gellé, MP, Coeuriot, JL, Jacquelin, LF, Bailleul-Forestier, I, Manière, MC, Van Hul, W, Bertola, D, Dollé, P, Verloes, A, Mortier, Geert, Dollfus, H, Bloch-Zupan, A

المصدر: HUMAN MOLECULAR GENETICS ; ISSN: 0964-6906 ; ISSN: 1460-2083

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, (LTBP)-3 NULL MICE, EXPRESSION, DEFECTS, DIFFERENTIATION, TOOTH, ABNORMALITIES, AMELOBLASTS, ACTIVATION, FORM

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8656274Test; http://hdl.handle.net/1854/LU-8656274Test; http://dx.doi.org/10.1093/hmg/ddv053Test; https://biblio.ugent.be/publication/8656274/file/8679333Test

الإتاحة: https://doi.org/10.1093/hmg/ddv053Test
https://biblio.ugent.be/publication/8656274Test
http://hdl.handle.net/1854/LU-8656274Test
https://biblio.ugent.be/publication/8656274/file/8679333Test

المؤلفون: Jaureguiberry, G., De la Dure-Molla, M., Parry, D., Quentric, M., Himmerkus, N., Koike, T., Poulter, J., Klootwijk, E., Robinette, S.L., Howie, A.J., Patel, V., Figueres, M.L., Stanescu, H.C., Issler, N., Nicholson, J.K., Bockenhauer, D., Laing, C., Walsh, S.B., McCredie, D.A., Povey, S., Asselin, A., Picard, A., Coulomb, A., Medlar, A.J., Bailleul-Forestier, I., Verloes, A., Le Caignec, C., Roussey, G., Guiol, J., Isidor, B., Logan, C., Shore, R., Johnson, C., Inglehearn, C., Al-Bahlani, S., Schmittbuhl, M., Clauss, F., Huckert, M., Laugel, V., Ginglinger, E., Pajarola, S., Spartà, G., Bartholdi, D., Rauch, A., Addor, M.C., Yamaguti, P.M., Safatle, H.P., Acevedo, A.C., Martelli-Júnior, H., dos Santos Netos, P.E., Coletta, R.D., Gruessel, S., Sandmann, C., Ruehmann, D., Langman, C.B., Scheinman, S.J., Ozdemir-Ozenen, D., Hart, T.C., Hart, P.S., Neugebauer, U., Schlatter, E., Houillier, P., Gahl, W.A., Vikkula, M., Bloch-Zupan, A., Bleich, M., Kitagawa, H., Unwin, R.J., Mighell, A., Berdal, A., Kleta, R.

المصدر: Nephron. Physiology, vol. 122, no. 1-2, pp. 1-6

مصطلحات موضوعية: Adolescent, Adult, Amelogenesis Imperfecta/complications, Amelogenesis Imperfecta/genetics, Child, Consanguinity, Dental Enamel Proteins/genetics, Exome/genetics, Family Health, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study, Humans, Male, Middle Aged, Mutation, Nephrocalcinosis/complications, Nephrocalcinosis/genetics, Pedigree, Sequence Analysis, DNA/methods, Syndrome, Young Adult

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23434854; info:eu-repo/semantics/altIdentifier/eissn/1660-2137; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_DCEC597C12541; https://serval.unil.ch/notice/serval:BIB_DCEC597C1254Test; urn:issn:1660-2110; https://serval.unil.ch/resource/serval:BIB_DCEC597C1254.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DCEC597C12541Test

الإتاحة: https://doi.org/10.1159/000349989Test
https://serval.unil.ch/notice/serval:BIB_DCEC597C1254Test
https://serval.unil.ch/resource/serval:BIB_DCEC597C1254.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DCEC597C12541Test

المؤلفون: Jaureguiberry, G, De la Dure-Molla, M, Parry, D, Quentric, M, Himmerkus, N, Koike, T, Poulter, J, Klootwijk, E, Robinette, SL, Howie, AJ, Patel, V, Figueres, ML, Stanescu, HC, Issler, N, Nicholson, JK, Bockenhauer, D, Laing, C, Walsh, SB, McCredie, DA, Povey, S, Asselin, A, Picard, A, Coulomb, A, Medlar, AJ, Bailleul-Forestier, I, Verloes, A, Le Caignec, C, Roussey, G, Guiol, J, Isidor, B, Logan, C, Shore, R, Johnson, C, Inglehearn, C, Al-Bahlani, S, Schmittbuhl, M, Clauss, F, Huckert, M, Laugel, V, Ginglinger, E, Pajarola, S, Spartà, G, Bartholdi, D, Rauch, A, Addor, MC, Yamaguti, PM, Safatle, HP, Acevedo, AC, Martelli-Júnior, H, dos Santos Netos, PE, Coletta, RD, Gruessel, S, Sandmann, C, Ruehmann, D, Langman, CB, Scheinman, SJ, Ozdemir-Ozenen, D, Hart, TC, Hart, PS, Neugebauer, U, Schlatter, E, Houillier, P, Gahl, WA, Vikkula, M, Bloch-Zupan, A, Bleich, M, Kitagawa, H, Unwin, RJ, Mighell, A, Berdal, A, Kleta, R

المصدر: Nephron Physiology , 122 (1-2) 1 - 6. (2012)

مصطلحات موضوعية: Adolescent, Adult, Amelogenesis imperfecta, Child, Consanguinity, Dental enamel proteins, Exome, Family health, Female, Genes, Recessive, Genetic predisposition to disease, Genome-wide association study, Humans, Male, Middle aged, Mutation, Nephrocalcinosis, Pedigree, Sequence Analysis, DNA, Syndrome, Young Adult

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1388316/1/349989.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1388316Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1388316/1/349989.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1388316Test/

المؤلفون: Bailleul-Forestier, I, Davideau, J L, Papagerakis, P, Noble, I, Nessmann, C, Peuchmaur, M, Berdal, A

المصدر: Pediatric Research ; volume 39, issue 4, page 636-642 ; ISSN 0031-3998 1530-0447

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1203/00006450-199604000-00013Test

المؤلفون: Vilanova-Saingery, C., Bailleul-Forestier, I., Vaysse, F., Vergnes, J.-N., Marty, M.

المصدر: European Archives of Paediatric Dentistry ; volume 18, issue 6, page 385-391 ; ISSN 1818-6300 1996-9805

مصطلحات موضوعية: Dentistry (miscellaneous), Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s40368-017-0307-7Test

المؤلفون: Köhler, S, Doelken, S, Mungall, C, Bauer, S, Firth, H, Bailleul-Forestier, I, Black, G, Brown, D, Brudno, M, Campbell, J, FitzPatrick, DR, Eppig, J, Jackson, A, Freson, K, Girdea, M, Helbig, I, Hurst, J, Jähn, J, Jackson, L, Kelly, A, Ledbetter, D, Mansour, S, Martin, C, Moss, C, Mumford, A

العلاقة: https://ora.ox.ac.uk/objects/uuid:ac0bd6f1-f810-4426-b214-8ca1285fa516Test; https://doi.org/10.1093/nar/gkt1026Test

الإتاحة: https://doi.org/10.1093/nar/gkt1026Test
https://ora.ox.ac.uk/objects/uuid:ac0bd6f1-f810-4426-b214-8ca1285fa516Test

المؤلفون: Poelmans, S., Kawamoto, T., Christofoli, F., Politis, C., Vermeesch, J., Bailleul-Forestier, I., Hens, G., Devriendt, K., Verdonck, A., Carels, C.E.L.

المصدر: American Journal of Medical Genetics. Part A, 167A, 10, pp. 2451-8

مصطلحات موضوعية: Radboudumc 10: Reconstructive and regenerative medicine RIMLS: Radboud Institute for Molecular Life Sciences

العلاقة: http://hdl.handle.net/2066/152265Test; https://doi.org/10.1002/ajmg.a.37207Test

الإتاحة: https://doi.org/10.1002/ajmg.a.37207Test
http://hdl.handle.net/2066/152265Test

المؤلفون: Kohler, S., Doelken, S.C., Mungall, C.J., Bauer, S., Firth, H.V., Bailleul-Forestier, I., Black, G.C.M., Brown, D.L., Brudno, M., Campbell, J., FitzPatrick, D.R., Eppig, J.T., Jackson, A.P., Freson, K., Girdea, M., Helbig, I., Hurst, J.A., Jahn, J., Jackson, L.G., Kelly, A.M., Ledbetter, D.H., Mansour, S., Martin, C.L., Moss, C., Mumford, A., Ouwehand, W.H., Park, S.M., Riggs, E.R., Scott, R.H., Sisodiya, S., Vooren, S. van der, Wapner, R.J., Wilkie, A.O., Wright, C.F., Silfhout, A.T. van, Leeuw, N. de, Vries, B. de, Washingthon, N.L., Smith, C.L., Westerfield, M., Schofield, P., Ruef, B.J., Gkoutos, G.V., Haendel, M., Smedley, D., Lewis, S.E., Robinson, P.N.

المصدر: Nucleic Acids Research, 42, Database issue, pp. D966-74

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders RIMLS: Radboud Institute for Molecular Life Sciences

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/136954/136954.pdfTest; http://hdl.handle.net/2066/136954Test; https://doi.org/10.1093/nar/gkt1026Test

الإتاحة: https://doi.org/10.1093/nar/gkt1026Test
http://hdl.handle.net/2066/136954Test
https://repository.ubn.ru.nl//bitstream/handle/2066/136954/136954.pdfTest

المؤلفون: Jaureguiberry, G, De la Dure-Molla, M, Parry, D, Quentric, M, Himmerkus, N, Koike, T, Poulter, J, Klootwijk, E, Robinette, SL, Howie, AJ, Patel, V, Figueres, M-L, Stanescu, HC, Issler, N, Nicholson, JK, Bockenhauer, D, Laing, C, Walsh, SB, McCredie, DA, Povey, S, Asselin, A, Picard, A, Coulomb, A, Medlar, AJ, Bailleul-Forestier, I, Verloes, A, Le Caignec, C, Roussey, G, Guiol, J, Isidor, B, Logan, C, Shore, R, Johnson, C, Inglehearn, C, Al-Bahlani, S, Schmittbuhl, M, Clauss, F, Huckert, M, Laugel, V, Ginglinger, E, Pajarola, S, Spartà, G, Bartholdi, D, Rauch, A, Addor, M-C, Yamaguti, PM, Safatle, HP, Acevedo, AC, Martelli-Júnior, H, dos Santos Netos, PE, Coletta, RD, Gruessel, S, Sandmann, C, Ruehmann, D, Langman, CB, Scheinman, SJ, Ozdemir-Ozenen, D, Hart, TC, Hart, PS, Neugebauer, U, Schlatter, E, Houillier, P, Gahl, WA, Vikkula, M, Bloch-Zupan, A, Bleich, M, Kitagawa, H, Unwin, RJ, Mighell, A, Berdal, A, Kleta, R

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/87175/1/FAM20A%20-Nephron%20Physiology.pdfTest; Jaureguiberry, G, De la Dure-Molla, M, Parry, D et al. (68 more authors) (2013) Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations. Nephron Physiology, 122 (1-2). pp. 1-6. ISSN 1660-8151

الإتاحة: https://eprints.whiterose.ac.uk/87175Test/
https://eprints.whiterose.ac.uk/87175/1/FAM20A%20-Nephron%20Physiology.pdfTest