1. A Mosaic Expression of a Hb J-Amiens (HBB: c.54G > T; p.Lys18Asn) and its Interference with Hb A1c Analysis. (2nd November 2015) Authors: Schiemsky, Toon; Van Hoovels, Lieve; Desmet, Koen J.O.; Phylipsen, Marion; Harteveld, Cornelis L.; Kieffer, Davy M.J. Journal: Hemoglobin Issue: Volume 39:Number 6(2015) Page Start: 435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Woman with Missing Hb A2 Due to a Novel (εγ)δβ0-Thalassemia and a Novel δ-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A). (3rd May 2020) Authors: Saller, Elisabeth; Knijnenburg, Jeroen; Harteveld, Cornelis L.; Dutly, Fabrizio Journal: Hemoglobin Issue: Volume 44:Number 3(2020) Page Start: 214 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Issue 8 (24th September 2021) Authors: Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W.; Traeger‐Synodinos, Joanne; Bento, Celeste; Harteveld, Cornelis L.; Fylaktou, Eirini; Koopmann, Tamara T.; Halim‐Fikri, Hashim; Michailidou, Kyriaki; Nfonsam, Landry E.; Waye, John S.; Zilfalil, Bin A.; Kleanthous, Marina Other Names: Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 8(2022) Page Start: 1089 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus. (17th June 2019) Authors: Traeger‐Synodinos, Joanne; Bosch, Cathy A. J.; Vrettou, Christina; Maragoudaki, Lena; Apostolidis, Janos; Kanavakis, Emmanuel; Kattamis, Christos; Arkesteijn, Sandra G. J.; Hoffer, Mariëtte J. V.; Ruivenkamp, Claudia A. L.; Harteveld, Cornelis L. Journal: British journal of haematology Issue: Volume 186:Number 6(2019) Page Start: e165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C). (2nd January 2020) Authors: van Gammeren, Adriaan J.; Pelkmans, Leonie; Endschot, Corné C.W. van; Roelofsen-de Beer, Roseri J.A.C.; Harteveld, Cornelis L. Journal: Hemoglobin Issue: Volume 44:Number 1(2020) Page Start: 61 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Breakpoint characterization of a rare alpha0‐thalassemia deletion using targeted locus amplification on genomic DNA. (12th July 2021) Authors: Hottentot, Quint P.; de Meijer, Emile; Buermans, Henk P. J.; White, Stefan J.; Harteveld, Cornelis L. Journal: International journal of laboratory hematology Issue: Volume 43:Number 6(2021) Page Start: 1628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Broader Spectrum of β-Thalassemia Mutations in Oman: Regional Distribution and Comparison with Neighboring Countries. (April 2015) Authors: Hassan, Suha M.; Harteveld, Cornelis L.; Bakker, Egbert; Giordano, Piero C. Journal: Hemoglobin Issue: Volume 39:Number 2(2015) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin. (October 2014) Authors: Marsella, Maria; Salvagno, Gianluca; Dolcini, Bernadetta; Ferlini, Alessandra; Ravani, Anna; Harteveld, Cornelis L.; Giordano, Piero C.; Borgna-Pignatti, Caterina Journal: Hemoglobin Issue: Volume 38:Number 5(2014) Page Start: 369 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance. (4th March 2018) Authors: Grimholt, Runa M.; Harteveld, Cornelis L.; Arkesteijn, Sandra G. J.; Fjeld, Bente; Klingenberg, Olav Journal: Hemoglobin Issue: Volume 42:Number 2(2018) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Cyanosis, hemolysis, decreased HbA1c and abnormal co-oximetry in a patient with hemoglobin M Saskatoon [HBB:c.190C > T p.His64Tyr]. Issue 1 (1st January 2021) Authors: Göttgens, Eva-Leonne; Baks, Kristian; Harteveld, Cornelis L.; Goossens, Kristel; van Gammeren, Adriaan J. Journal: Hematology Issue: Volume 26:Issue 1(2021) Page Start: 914 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗