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1دورية أكاديمية
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 ).
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2دورية أكاديمية
المؤلفون: Chau, Y, Brownstein, D, Mjoseng, H, Lee, W, Buza-Vidas, N, Nerlov, C, Jacobsen, S, Perry, P, Berry, R, Thornburn, A, Sexton, D, Morton, N, Hohenstein, P, Freyer, E, Samuel, K, van't Hof, R, Hastie, N
العلاقة: https://ora.ox.ac.uk/objects/uuid:8b86e1b6-cc56-4411-80b7-f94820540408Test; https://doi.org/10.1371/journal.pgen.1002404Test
الإتاحة: https://doi.org/10.1371/journal.pgen.1002404Test
https://ora.ox.ac.uk/objects/uuid:8b86e1b6-cc56-4411-80b7-f94820540408Test -
3دورية أكاديمية
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/
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4دورية أكاديمية
المؤلفون: Mehlig, K., Freyer, E., Tognon, G., Malmros, V., Lissner, L., Bosaeus, I.
المساهمون: Swedish Research Council for Health, Working Life, and Welfare, Bank of Tercenary Fund, Sahlgrenska Academy
المصدر: Clinical Nutrition ESPEN ; volume 10, issue 1, page e26-e32 ; ISSN 2405-4577
مصطلحات موضوعية: Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.clnme.2014.11.001Test
https://api.elsevier.com/content/article/PII:S2212826314000529?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2212826314000529?httpAccept=text/plainTest -
5
المؤلفون: Hafezi K, Lee Murphy, Peter Foley, Rozanna Meijboom, Chang J, Amy Stenson, Baranzini S, Patrick K. A. Kearns, David M. Hunt, Carod-Artal F, McLeod M, O’Riordan J, Freyer E, Chen Y, Harroud A, Martin S, MacDougall N, Siddharthan Chandran, Elizabeth N. York, Christine Weaver, Adam D. Waldman, Peter Connick
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Multiple sclerosis, Disease, medicine.disease, INCEPTION COHORT, Relapsing remitting, Cohort, medicine, Biomarker (medicine), Multi centre, business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::93df12e51a9d9a26973ae0f521b44432Test
https://doi.org/10.1101/2021.04.15.21253274Test -
6دورية أكاديمية
المؤلفون: Freyer, E.
المصدر: Freyer, E.: Schulblatt für die Provinz Brandenburg - 61.1896. 61 1896
مصطلحات موضوعية: 370.education, Article
وصف الملف: image/jpeg; application/pdf
العلاقة: http://resolver.sub.uni-goettingen.de/purl?986732818_0061%7CLOG_0035Test; DigiZeit 986732818_0061%7CLOG_0035
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7دورية أكاديمية
المؤلفون: ESKELAND, R.1, FREYER, E.1, LEEB, M.2, WUTZ, A.2, BICKMORE, W. A.1 W.Bickmore@hgu.mrc.ac.uk
المصدر: Cold Spring Harbor Symposia on Quantitative Biology. 2010, Vol. 75, p71-78. 8p. 6 Graphs.
مصطلحات موضوعية: *HISTONES, *ACETYLATION, *CHROMATIN, *NUCLEOPROTEINS, *PROTEINS
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8دورية أكاديمية
المؤلفون: Hopper, T., Ainslie, E., Brown, L., Earle, F., Freyer, E., Henry, G., Konen, J., McKinney, R., Maskey, D., Mehlenbacher, V., Potts, T., Rettger, T., Smith, T.
المصدر: Journal of the American Oil Chemists' Society (JAOCS); Dec1952, Vol. 29 Issue 12, p604-611, 8p
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9دورية أكاديمية
المؤلفون: Ainslie, E., Brown, L., Earle, F., Cox, C., Freyer, E., Konen, J., Law, T., McKinney, R., Mehlenbacher, V., Potts, T., Rettger, T., Smith, T., Hopper, T.
المصدر: Journal of the American Oil Chemists' Society (JAOCS); Jan1950, Vol. 27 Issue 1, p21-24, 4p
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10دورية أكاديمية
المؤلفون: Brown, L., Gerhart, Leonard, Smith, T., Dippold, M., Anderson, R., Earle, F., Freyer, E., Geddes, W., Gunther, J., Mehlenbacher, V., Laing, M., Potts, T., Pohle, W., Collins, R., Ainslie, E., Cox, C., Conner Henry, G., law, T., Andrews, R., Worthen Agee, G.
المصدر: Journal of the American Oil Chemists' Society (JAOCS); Sep1948, Vol. 25 Issue 9, p319-326, 8p
