المؤلفون: de Lima e Silva, Tássia C., da Silveira, Livia T. R., Fragoso, Mariana F., da Silva, Flávia R. M., Martinez, Meire F., Zapaterini, Joyce R., Diniz, Odair H. G., Scarano, Wellerson R., Barbisan, Luis F.

المساهمون: Universidade Estadual Paulista (UNESP)

وصف الملف: 286-297

العلاقة: Hormones and Cancer; 1,251; http://dx.doi.org/10.1007/s12672-017-0304-7Test; Hormones and Cancer, v. 8, n. 5-6, p. 286-297, 2017.; http://hdl.handle.net/11449/175014Test; 2-s2.0-85026904264; 2-s2.0-85026904264.pdf

الإتاحة: https://doi.org/10.1007/s12672-017-0304-7Test
http://hdl.handle.net/11449/175014Test

المؤلفون: McEntagart, M., Williamson, K.A., Rainger, J.K., Wheeler, A., Seawright, A., De Baere, E., Verdin, H., Bergendahl, L. T., Quigley, A., Rainger, J., Dixit, A., Sarkar, A., Lopez Laso, E., Sanchez-Carpintero, R., Barrio, J., Bitoun, P., Prescott, T., Riise, R., McKee, S., Cook, J., McKie, L., Ceulemans, B., Meire, F., Temple, I.K., Prieur, F., Williams, J., Clouston, P., Nemeth, A.H., Banka, S., Bengani, H., Handley, M., Freyer, E., Ross, A., van Heyningen, V., Marsh, J.A., Elmslie, F., FitzPatrick, D.R.

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/392037/1/ITPR1%2520Gillespie%2520Syndrome%2520AJHG%2520Report%2520Final%2520V3.docxTest; https://eprints.soton.ac.uk/392037/2/1_s2.0_S0002929716300532_main.pdfTest; McEntagart, M., Williamson, K.A., Rainger, J.K., Wheeler, A., Seawright, A., De Baere, E., Verdin, H., Bergendahl, L. T., Quigley, A., Rainger, J., Dixit, A., Sarkar, A., Lopez Laso, E., Sanchez-Carpintero, R., Barrio, J., Bitoun, P., Prescott, T., Riise, R., McKee, S., Cook, J., McKie, L., Ceulemans, B., Meire, F., Temple, I.K., Prieur, F., Williams, J., Clouston, P., Nemeth, A.H., Banka, S., Bengani, H., Handley, M., Freyer, E., Ross, A., van Heyningen, V., Marsh, J.A., Elmslie, F. and FitzPatrick, D.R. (2016) A restricted repertoire of De Novo Mutations in ITPR1 cause Gillespie Syndrome with evidence for dominant negative effect. The American Journal of Human Genetics, 98 (5), 981-992. (doi:10.1016/j.ajhg.2016.03.018 ).

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.03.018Test
https://eprints.soton.ac.uk/392037Test/
https://eprints.soton.ac.uk/392037/1/ITPR1%2520Gillespie%2520Syndrome%2520AJHG%2520Report%2520Final%2520V3.docxTest
https://eprints.soton.ac.uk/392037/2/1_s2.0_S0002929716300532_main.pdfTest

المؤلفون: Coppieters, F., Ascari, G., Dannhausen, K., Nikopoulos, K., Peelman, F., Karlstetter, M., Xu, M., Brachet, C., Meunier, I., Tsilimbaris, M.K., Tsika, C., Blazaki, S.V., Vergult, S., Farinelli, P., Van Laethem, T., Bauwens, M., De Bruyne, M., Chen, R., Langmann, T., Sui, R., Meire, F., Rivolta, C., Hamel, C.P., Leroy, B.P., De Baere, E.

المصدر: American journal of human genetics, vol. 99, no. 2, pp. 470-480

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Alleles, Child, Consanguinity, Cullin Proteins/metabolism, Exome/genetics, Female, Founder Effect, Genes, Recessive, Guanine Nucleotide Exchange Factors/genetics, Haplotypes/genetics, Homozygote, Humans, Lymphocytes/metabolism, Male, Mutation, Missense/genetics, NF-E2-Related Factor 2/metabolism, Pedigree, Phenotype, RNA, Messenger/genetics, Retina/metabolism, Retinal Dystrophies/genetics, Syndrome, Turkey, Ubiquitination/genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27486781; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D94870497C067; https://serval.unil.ch/notice/serval:BIB_D94870497C06Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2016.06.017Test
https://serval.unil.ch/notice/serval:BIB_D94870497C06Test
https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test

المؤلفون: Ansari, M, Rainger, J, Hanson, IM, Williamson, KA, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, DS, Stewart, F, Willoughby, CE, McEntagart, M, Khaw, PT, Clericuzio, C, Van Maldergem, L, Williams, D, Newbury-Ecob, R, Traboulsi, EI, Silva, ED, Madlom, MM, Goudie, DR, Fleck, BW, Wieczorek, D, Kohlhase, J, McTrusty, AD, Gardiner, C, Yale, C, Moore, AT, Russell-Eggitt, I, Islam, L, Lees, M, Beales, PL, Tuft, SJ, Solano, JB, Splitt, M, Hertz, JM, Prescott, TE, Shears, DJ, Nischal, KK, Doco-Fenzy, M, Prieur, F, Temple, IK, Lachlan, KL, Damante, G, Morrison, DA, van Heyningen, V, FitzPatrick, DR

المصدر: PLoS One , 11 (4) , Article e0153757. (2016)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1489804/7/Ansari%202016%20Genetic%20analysis%20of%20PAX6-Negative.PDFTest; https://discovery.ucl.ac.uk/id/eprint/1489804Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1489804/7/Ansari%202016%20Genetic%20analysis%20of%20PAX6-Negative.PDFTest
https://discovery.ucl.ac.uk/id/eprint/1489804Test/

المؤلفون: McEntagart, M, Williamson, KA, Rainger, JK, Wheeler, A, Seawright, A, De Baere, E, Verdin, H, Bergendahl, LT, Quigley, A, Rainger, J, Dixit, A, Sarkar, A, López Laso, E, Sanchez-Carpintero, R, Barrio, J, Bitoun, P, Prescott, T, Riise, R, McKee, S, Cook, J, McKie, L, Ceulemans, B, Meire, F, Temple, IK, Prieur, F, Williams, J, Clouston, P, Németh, AH, Banka, S, Bengani, H, Handley, M, Freyer, E, Ross, A, DDD Study, ., van Heyningen, V, Marsh, JA, Elmslie, F, FitzPatrick, DR

المصدر: American Journal of Human Genetics , 98 (5) pp. 981-992. (2016)

مصطلحات موضوعية: ACTA2, ITPR1, aniridia, calcium, cerebellar ataxia, cerebellar hypoplasia, cerebellar vermis, inositol triphosphate, iris

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1489801/1/Restricted%20repertoire%201-s2.0-S0002929716300532-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1489801Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1489801/1/Restricted%20repertoire%201-s2.0-S0002929716300532-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1489801Test/

المؤلفون: Schuster, V, Zeitler, P, Seregard, S, Ozcelik, U, Anadol, D, Luchtman-Jones, L, Meire, F, Mingers, AM, Schambeck, C, Kreth, HW

المصدر: Thrombosis and haemostasis. 85(6):1004-1010

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:17545194Test

المؤلفون: Luvizutto, João Fl, de Lm Solano, Marize, Martinez, Meire F, Fernandez, Carla Db, de A Umbuzeiro, Gisela, de Camargo, João Lv

المصدر: Endocrine Disruptors ; volume 3, issue 1, page e1066656 ; ISSN 2327-3747

الإتاحة: https://doi.org/10.1080/23273747.2015.1066656Test

المؤلفون: D'Haene, B. (Barbara), Meire, F. (Françoise), Claerhout, I. (Ilse), Kroes, H.Y. (Hester), Plomp, A. (Astrid), Arens, Y.H.J.M. (Yvonne), Ravel, T. (Thomy) de, Casteels, I., Jaegere, S. (Sarah) de, Hooghe, S. (Sally), Wuyts, W. (Wim), Ende, J. (Jenneke) van den, Roulez, F. (Françoise), Veenstra-Knol, H.E. (Hermine), Oldenburg, R.A. (Rogier), Giltay, J. (Jacques), Verheij, J.B.G.M. (Johanna), Faber, J.-T. de, Menten, B., Paepe, A. (Anne) de, Kestelyn, P. (Philippe), Leroy, B.P. (Bart), De Baere, E. (Elfride)

المصدر: Investigative Ophthalmology & Visual Science vol. 52 no. 1, pp. 324-333

العلاقة: http://repub.eur.nl/pub/33719Test; urn:hdl:1765/33719

الإتاحة: https://doi.org/10.1167/iovs.10-5309Test
http://repub.eur.nl/pub/33719Test

المؤلفون: Coppieters, F, Casteels, I, Meire, F, De Jaegere, S, Hooghe, S, van Regemorter, N, Van Esch, H, Matuleviciene, A, Nunes, L, Meersschaut, V, Walraedt, S, Standaert, L, Coucke, P, Hoeben, H, Kroes, H, Vande Walle, J, de Ravel, T, Leroy, B, De Baere, E

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Adolescent, Adult, Antigens, Neoplasm, Belgium, Child, Preschool, DNA Mutational Analysis, Gene Expression Profiling, Genotype, Humans, Infant, Leber Congenital Amaurosis, Middle Aged, Neoplasm Proteins, Oligonucleotide Array Sequence Analysis, Phenotype, Proteins, Retinal Degeneration, Retinal Dystrophies, Young Adult, Alleles, Genetic Testing, HDE - GEN

العلاقة: Hum Mutat. 2010 Oct;31(10):E1709-66; http://hdl.handle.net/10400.17/2486Test

الإتاحة: https://doi.org/10.1002/humu.21336Test
http://hdl.handle.net/10400.17/2486Test

المؤلفون: Van Coster, R., Misson, Jean-Paul, Meire, F., Obermaier-Kusser, B.

المصدر: Annals of Neurology. New York, NY: Wiley Liss, Inc (1994).

مصطلحات موضوعية: Human health sciences :: Pediatrics, Sciences de la santé humaine :: Pédiatrie

العلاقة: Child Neurology Society, San Francisco

الوصول الحر: https://orbi.uliege.be/handle/2268/64636Test