Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia von Harteveld, Cornelis L, Achour, Ahlem, Fairuz Mohd Hasan, Nik Fatma, Legebeke, Jelmer, Arkesteijn, Sandra J G, Huurne, Jeanet Ter, Verschuren, Maaike, Bhagwandien-Bisoen, Sharda, Schaap, Rianne, Vijfhuizen, Linda, Idrissi, Hakima El, Babbs, Christian, Higgs, Douglas R, Koopmann, Tamara T, Vrettou, Christina, Traeger-Synodinos, Joanne, Baas, Frank

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Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test von Nik Mohd Hasan, Nik Fatma Fairuz, Arkesteijn, Sandra J G, Ter Huurne, Jeanet, Verschuren, Maaike, Bhagwandien-Bisoen, Sharda, Schaap, Rianne, Vijfhuizen, Linda, El Idrissi, Hakima, Koopmann, Tamara T, Harteveld, Cornelis L

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The hemoglobinopathies, molecular disease mechanisms and diagnostics von Harteveld, Cornelis L., Achour, Ahlem, Arkesteijn, Sandra J. G., Huurne, Jeanet, Verschuren, Maaike, Bhagwandien‐Bisoen, Sharda, Schaap, Rianne, Vijfhuizen, Linda, Idrissi, Hakima, Koopmann, Tamara T.

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A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H von Achour, Ahlem, Koopmann, Tamara, Castel, Rob, Santen, Gijs W.E., den Hollander, Nicolette, Knijnenburg, Jeroen, Ruivenkamp, Claudia A.L., Arkesteijn, Sandra G.J., ter Huurne, Jeanet, Bisoen, Sharda, Verschuren, Maaike, Vijfhuizen, Linda, Schaap, Rianne, Grimbergen, Anneliese, Slomp, Jennichjen, Traeger-Synodinos, Joanne, Vrettou, Christina, Pissard, Serge, Galacteros, Frederic, Baas, Frank, Harteveld, Cornelis L.

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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 von 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.

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Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance von Grimholt, Runa Marie, Harteveld, Cornelis, Arkesteijn, Sandra G J, Fjeld, Bente, Klingenberg, Olav

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A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW)) von Phylipsen, Marion, Vogelaar, Ingrid P, Schaap, Rianne A C, Arkesteijn, Sandra G J, Boxma, George L, van Helden, Willem C H, Wildschut, Irene C M, de Bruin-Roest, Andrea C, Giordano, Piero C, Harteveld, Cornelis L

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Hb Lepore-Leiden: A New δ β Rearrangement Associated with a β-Thalassemia Minor Phenotype von Harteveld, Cornelis L., Wijermans, Pierre W., Arkesteijn, Sandra G.J., Van Delft, Peter, Kerkhoffs, Jean-Louis, Giordano, Piero C.

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The First Case of Hb Groene Hart [α119(H2)Pro→Ser, CCT→TCT (α1)] Homozygosity Confirms That a Thalassemia Phenotype Is Associated with this Abnormal Hemoglobin Variant von Giordano, Piero C., Zweegman, Sonja, Akkermans, Nicole, Arkesteijn, Sandra G.J., van Delft, Peter, Versteegh, Florens G.A., Wajcman, Henri, Harteveld, Cornelis L.

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α‐thalassaemia masked by β gene defects and a new polyadenylation site mutation on the α2‐globin gene von Harteveld, Cornelis L., Oosterhuis, Wytze P., Schoenmakers, Christian H. H., Ananta, Hardjawardhama, Kos, Snjezana, Bakker Verweij, Margaretha, Van Delft, Peter, Arkesteijn, Sandra G. J., Phylipsen, Marion, Giordano, Piero C.

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a-thalassaemia masked by b gene defects and a new polyadenylation site mutation on the a2-globin gene von Harteveld, Cornelis L, Oosterhuis, Wytze P, Schoenmakers, Christian HH, Ananta, Hardjawardhama, Kos, Snjezana, Bakker Verweij, Margaretha, van Delft, Peter, Arkesteijn, Sandra GJ, Phylipsen, Marion, Giordano, Piero C

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alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene von Harteveld, Cornelis L, Oosterhuis, Wytze P, Schoenmakers, Christian H H, Ananta, Hardjawardhama, Kos, Snjezana, Bakker Verweij, Margaretha, van Delft, Peter, Arkesteijn, Sandra G J, Phylipsen, Marion, Giordano, Piero C

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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 von 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

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α-thalassaemia masked by β gene defects and a new polyadenylation site mutation on the α2-globin gene von Harteveld, Cornelis L., Oosterhuis, Wytze P., Schoenmakers, Christian H. H., Ananta, Hardjawardhama, Kos, Snjezana, Bakker Verweij, Margaretha, Van Delft, Peter, Arkesteijn, Sandra G. J., Phylipsen, Marion, Giordano, Piero C.

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Increased NCAM expression and vascular development in trisomy 16 mouse embryos : Relationship with nuchal translucency von BEKKER, Mireille N, ARKESTEIJN, Jenny B, VAN DEN AKKER, Nynke M. S, HOFFMAN, Stanley, WEBB, Sandra, VAN VUGT, John M. G, GITTENBERGER-DE GROOT, Adriana C

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Hb Buffalo [α89(FG1)His→Gln (α1)], Observed Solely and in the Presence of an Hb S [β6(A3)Glu→Val] Heterozygosity von Harteveld, Cornelis L., Van Delft, Peter, Akkermans, Nicole, Arkesteijn, Sandra, Van Rooijen-Nijdam, Irene H., Kok, Peter J.M.J., Versteegh, Florens G.A., Giordano, Piero C.

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Nuchal Edema and Venous-Lymphatic Phenotype Disturbance in Human Fetuses and Mouse Embryos With Aneuploidy von Bekker, Mireille N., van den Akker, Nynke M. S., Bartelings, Margot M., Arkesteijn, Jenny B., Fischer, Sigrid G. L., Polman, Japke A. E., Haak, Monique C., Webb, Sandra, Poelmann, Robert E., van Vugt, John M. G., Gittenberger-de Groot, Adriana C.

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