نتائج البحث - "Harteveld, C.L."

1

دورية أكاديمية

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2

دورية أكاديمية

Sickle cell anemia and α-thalassemia: A modulating factor in homozygous HbS/S patients in Oman

المؤلفون: Hassan, S.M., Al Muslahi, M., Al Riyami, M., Bakker, E., Harteveld, C.L., Giordano, P.C.

المصدر: In European Journal of Medical Genetics November-December 2014 57(11-12):603-606

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3

دورية أكاديمية

Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology

المؤلفون: Hassan, S.M., Vossen, R.H.A.M., Chessa, R., den Dunnen, J.T., Bakker, E., Giordano, P.C., Harteveld, C.L.

المصدر: In Blood Cells, Molecules and Diseases September 2014 53(3):133-137

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4

Transfusie-onafhankelijke thalassemie (thalassemie intermedia): een klinische diagnose met majeure complicaties

المؤلفون: Schols, S.E.M., Harteveld, C.L., Biemond, B.J., Nur, E.

المصدر: Nederlands Tijdschrift voor Hematologie, 17, 1, pp. 10-19
Nederlands Tijdschrift voor Hematologie, 17, 10-19

مصطلحات موضوعية: Vascular damage Radboud Institute for Health Sciences [Radboudumc 16]

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d0f309efd381cd63b9c1247579160a4a
https://hdl.handle.net/2066/217788

5

دورية أكاديمية

Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients

المؤلفون: Harteveld, C.L., Refaldi, C., Cassinerio, E., Cappellini, M.D., Giordano, P.C.

المصدر: In Blood Cells, Molecules and Diseases 2008 40(3):312-316

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A Woman with Missing Hb A(2) Due to a Novel (epsilon gamma)delta beta(0)-Thalassemia and a Novel delta-Globin Variant Hb A(2)-Gebenstorf (HBD: c.209G > A)

المؤلفون: Saller, E., Knijnenburg, J., Harteveld, C.L., Dutly, F.

المصدر: Hemoglobin, 44(3), 214-217. TAYLOR & FRANCIS LTD

مصطلحات موضوعية: novel delta gene variant Hb A(2)-Gebenstorf, beta-thalassemia (beta-thal), novel locus control region (LCR) enhancer deletion, Lack of Hb A(2)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b5f92ab0afceb7a752a902ab3241c585
http://hdl.handle.net/1887/3184789

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ATR-16 syndrome: Mechanisms linking monosomy to phenotype

المؤلفون: Babbs, C. Brown, J. Horsley, S.W. Slater, J. Maifoshie, E. Kumar, S. Ooijevaar, P. Kriek, M. Dixon-Mciver, A. Harteveld, C.L. Traeger-Synodinos, J. Wilkie, A.O.M. Higgs, D.R. Buckle, V.J.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::5618fa09615104e4d0ac08e8ac8e8ffb
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3078400

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A new gene associated with a b-thalassemia phenotype: The observation of variants in SUPT5H

المؤلفون: Achour, A. Koopmann, T. Castel, R. Santen, G.W.E. den Hollander, N. Knijnenburg, J. Ruivenkamp, C.A.L. Arkesteijn, S.G.J. Huurne, J.T. Bisoen, S. Verschuren, M. Vijfhuizen, L. Schaap, R. Grimbergen, A. Slomp, J. Traeger-Synodinos, J. Vrettou, C. Pissard, S. Galacteros, F. Baas, F. Harteveld, C.L.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::b75439fa24820484614469cfe4656d18
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3000119

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Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus

المؤلفون: Traeger-Synodinos, J. Bosch, C.A.J. Vrettou, C. Maragoudaki, L. Apostolidis, J. Kanavakis, E. Kattamis, C. Arkesteijn, S.G.J. Hoffer, M.J.V. Ruivenkamp, C.A.L. Harteveld, C.L.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2127::a7b5d598ca7f9cf060d5e9dd864bea94
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3105713

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Molecular basis of alpha-thalassemia

المؤلفون: Farashi, S., Harteveld, C.L.

المصدر: Blood Cells, Molecules and Diseases, 70, 43-53

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::187c3b3d8bf91971eba5f869cb061774
http://hdl.handle.net/1887/79403

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