المؤلفون: Vijayakrishnan, J, Henrion, M, Moorman, AV, Fiege, B, Kumar, R, da Silva Filho, MI, Holroyd, A, Koehler, R, Thomsen, H, Irving, JA, Allan, JM, Lightfoot, T, Roman, E, Kinsey, SE, Sheridan, E, Thompson, PD, Hoffmann, P, Nothen, MM, Muhleisen, TW, Eisele, L, Bartram, CR, Schrappe, M, Greaves, M, Hemminki, K, Harrison, CJ, Stanulla, M, Houlston, RS

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/98107/1/The%209p21.3%20risk%20of%20childhood%20acute%20lymphoblastic%20leukaemia%20is%20explained%20by%20a%20rare%20high-impact%20variant%20in%20CDKN2A.pdfTest; Vijayakrishnan, J, Henrion, M, Moorman, AV et al. (24 more authors) (2015) The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A. Scientific Reports, 5. 15065. ISSN 2045-2322

الإتاحة: https://doi.org/10.1038/srep15065Test
https://eprints.whiterose.ac.uk/98107Test/
https://eprints.whiterose.ac.uk/98107/1/The%209p21.3%20risk%20of%20childhood%20acute%20lymphoblastic%20leukaemia%20is%20explained%20by%20a%20rare%20high-impact%20variant%20in%20CDKN2A.pdfTest

المؤلفون: Gartner, KH, Blau, N, Baykal, T, Kierat, L, Thony, B, Zurfluh, MR, Giovannini, M, Fiori, L, Fiege, B, Gokdemir, Y

المساهمون: 176844

مصطلحات موضوعية: Tıbbi Ekoloji ve Hidroklimatoloji, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Temel Bilimler, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED), GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp

العلاقة: MOLECULAR GENETICS AND METABOLISM; Zurfluh M., Giovannini M., Fiori L., Fiege B., Gokdemir Y., Baykal T., Kierat L., Gartner K., Thony B., Blau N., "Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper", MOLECULAR GENETICS AND METABOLISM, cilt.86, 2005; vv_1032021; av_bf0120a2-82df-4e71-855b-673fa5a4fd2d; http://hdl.handle.net/20.500.12627/126837Test; https://doi.org/10.1016/j.ymgme.2005.09.011Test; 86

الإتاحة: https://doi.org/20.500.12627/126837Test
https://doi.org/10.1016/j.ymgme.2005.09.011Test
https://hdl.handle.net/20.500.12627/126837Test

المؤلفون: Thoeny, B., Blau, N., Demirkol, M., Gaertner, K., Giovannini, M., Zurflueh, M., Fiori, L., Fiege, B., Ozer, I., Gokdemir, Y.

المساهمون: 179507

مصطلحات موضوعية: Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, GENETİK VE HAYAT, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED)

العلاقة: JOURNAL OF INHERITED METABOLIC DISEASE; Zurflueh M., Fiori L., Fiege B., Ozer I., Gokdemir Y., Demirkol M., Gaertner K., Thoeny B., Giovannini M., Blau N., "Pharmacokinetic of orally administered BH4 in patients with phenylalanine hydroxylase deficiency", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.29, ss.91, 2006; vv_1032021; av_67c6aaa8-dfd4-4624-ac91-a715b485c008; http://hdl.handle.net/20.500.12627/72012Test; 29; 91

الإتاحة: https://doi.org/20.500.12627/72012Test
https://hdl.handle.net/20.500.12627/72012Test

المؤلفون: Kuru, NB, Blau, N, Thony, B, Kierat, L, Demirkol, M, Baykal, T, Zurfluh, M, Fiori, L, Fiege, B, Giovannini, M

المساهمون: 130558

مصطلحات موضوعية: Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, Klinik Tıp (MED), GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp

العلاقة: Zurfluh M., Fiori L., Fiege B., Giovannini M., Kuru N., Baykal T., Demirkol M., Kierat L., Thony B., Blau N., "Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.", Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD 2005), California, Amerika Birleşik Devletleri, 6 - 09 Mart 2005, cilt.84, ss.214-215; vv_1032021; av_cdb7ae12-d756-46d8-9872-df8c052c9d45; http://hdl.handle.net/20.500.12627/136120Test; 84

الإتاحة: https://doi.org/20.500.12627/136120Test
https://hdl.handle.net/20.500.12627/136120Test

المؤلفون: Zurflüh, M R, Fiori, L, Fiege, B, Ozen, I, Demirkol, M, Gärtner, K H, Thöny, B, Giovannini, M, Blau, N

المصدر: Zurflüh, M R; Fiori, L; Fiege, B; Ozen, I; Demirkol, M; Gärtner, K H; Thöny, B; Giovannini, M; Blau, N (2006). Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. Journal of Inherited Metabolic Disease, 29(6):725-731.

مصطلحات موضوعية: 610 Medicine & health

الوقت: 142-005

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/156154/1/ZORA_NL_156154.pdfTest; info:pmid/17091341; urn:issn:0141-8955

الإتاحة: https://doi.org/10.5167/uzh-15615410.1007/s10545-006-0425-6Test
https://www.zora.uzh.ch/id/eprint/156154Test/
https://www.zora.uzh.ch/id/eprint/156154/1/ZORA_NL_156154.pdfTest

المؤلفون: Fiege, B., Fiori, L., Bonafe, L., Ballhausen, D., Baumgartner, M., Thoeny, B., Giovannini, M., Blau, N.

المصدر: SSIEM 2005, 42st Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, vol. 28, pp. 31

العلاقة: info:eu-repo/semantics/altIdentifier/isbn/0141-8955; https://serval.unil.ch/notice/serval:BIB_64D25F9C334DTest

الإتاحة: https://serval.unil.ch/notice/serval:BIB_64D25F9C334DTest

المؤلفون: Migliorini, G, Fiege, B, Hosking, FJ, Ma, Y, Kumar, R, Sherborne, AL, da Silva Filho, MI, Vijayakrishnan, J, Koehler, R, Thomsen, H, Irving, JA, Allan, JM, Lightfoot, T, Roman, E, Kinsey, SE, Sheridan, E, Thompson, P, Hoffmann, P, Noethen, MM, Muehleisen, TW, Eisele, L, Zimmermann, M, Bartram, CR, Schrappe, M, Greaves, M, Stanulla, M, Hemminki, K, Houlston, RS

العلاقة: http://epubs.surrey.ac.uk/838021Test/; Migliorini, G, Fiege, B, Hosking, FJ, Ma, Y, Kumar, R, Sherborne, AL, da Silva Filho, MI, Vijayakrishnan, J, Koehler, R, Thomsen, H, Irving, JA, Allan, JM, Lightfoot, T, Roman, E, Kinsey, SE, Sheridan, E, Thompson, P, Hoffmann, P, Noethen, MM, Muehleisen, TW, Eisele, L, Zimmermann, M, Bartram, CR, Schrappe, M, Greaves, M, Stanulla, M, Hemminki, K and Houlston, RS (2013) Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype BLOOD, 122 (19). pp. 3298-3307.

الإتاحة: https://doi.org/10.1182/blood-2013-03-491316Test

المؤلفون: Fiege, B., Rademacher, C., Cartmell, J., Kitov, P., Parra, F., Peters, T.

المصدر: Angewandte Chemie International Edition

العلاقة: http://hdl.handle.net/21.11116/0000-0001-EDDF-ATest

الإتاحة: https://doi.org/10.1002/anie.201105719Test
http://hdl.handle.net/21.11116/0000-0001-EDDF-ATest

المؤلفون: Rademacher, C., Guiard, J., Kitov, P., Fiege, B., Dalton, K., Parra, F., Bundle, D., Peters, T.

المصدر: Chemistry – A European Journal

العلاقة: http://hdl.handle.net/21.11116/0000-0001-EF03-FTest

الإتاحة: https://doi.org/10.1002/chem.201003432Test
http://hdl.handle.net/21.11116/0000-0001-EF03-FTest

المؤلفون: Giovannini, M., Fiori, L., Fiege, B., Ozen, I., Zurfluh, M. R., Demirkol, M., Gartner, K. H., Thony, B., Blau, N.

المساهمون: 180613

مصطلحات موضوعية: Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED)

العلاقة: JOURNAL OF INHERITED METABOLIC DISEASE; Zurfluh M. R. , Fiori L., Fiege B., Ozen I., Demirkol M., Gartner K. H. , Thony B., Giovannini M., Blau N., "Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.29, ss.725-731, 2006; vv_1032021; av_b65f046c-dddd-4d5e-8cca-79986d855e11; http://hdl.handle.net/20.500.12627/121391Test; https://doi.org/10.1007/s10545-006-0425-6Test; 29; 725; 731

الإتاحة: https://doi.org/20.500.12627/121391Test
https://doi.org/10.1007/s10545-006-0425-6Test
https://hdl.handle.net/20.500.12627/121391Test