Cornelis L. Harteveld

Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

Cornelis L. Harteveld, Astrid Voskamp, Marion Phylipsen et al. · Journal of Medical Genetics · 2005 · 225 citations · Full text

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Belinda Giardine, Joseph Borg, Douglas R. Higgs et al. · Nature Genetics · 2011 · 160 citations · Full text

Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi‐ethnic populations

Peter van Delft, Egbert Lenters, Margreet Bakker‐Verweij et al. · International Journal of Laboratory Hematology · 2009 · 127 citations

Genetic Epidemiology, Diagnosis, Pathology +22

Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients.

Majid Yavarian, Mehran Karimi, Egbert Bakker et al. · PubMed · 2004 · 107 citations

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Anneke T. Vulto‐van Silfhout, Bert de Vries, Bregje W.M. van Bon et al. · The American Journal of Human Genetics · 2013 · 95 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4