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Human Genetics|February 26, 2010
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin EManit Nuinoon, Wattanan Makarasara, Taisei Mushiroda, et al.
Human Molecular Genetics|August 14, 2003
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosisAlison T Merryweather-Clarke, Estelle Cadet, Adrian Bomford, et al.
Science (New York, N.Y.)|May 27, 2006
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoterMarco De Gobbi, Vip Viprakasit, Jim R Hughes, et al.
Haematologica|January 25, 2012
Deferasirox for up to 3 years leads to continued improvement of myocardial T2* in patients with β-thalassemia majorDudley J Pennell, John B Porter, Maria Domenica Cappellini, et al.
Haematologica|November 13, 2010
Continued improvement in myocardial T2* over two years of deferasirox therapy in β-thalassemia major patients with cardiac iron overloadDudley J Pennell, John B Porter, Maria Domenica Cappellini, et al.
BMJ Open|March 23, 2023
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study designRachael F Grace, Eduard J van Beers, Joan-Lluis Vives Corrons, et al.
Blood|December 10, 2009
Efficacy of deferasirox in reducing and preventing cardiac iron overload in beta-thalassemiaDudley J Pennell, John B Porter, Maria Domenica Cappellini, et al.
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