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Akademický článek

Additional value of red blood cell parameters in predicting uncommon α‐thalassemia; experience from 10 years of α‐globin gene sequencing and copy number variation analysis.

Autor: Fjeld, Bente, Sudmann‐Day, Åshild Amelie, Grimholt, Runa Marie, Larstorp, Anne Cecilie Kjeldsen, Urdal, Petter, Klingenberg, Olav

Publikováno v: International Journal of Laboratory Hematology; Apr2023, Vol. 45 Issue 2, p250-259, 10p

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Akademický článek

Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis

Autor: Fjeld, Bente, Sudmann-Day, Åshild Amelie, Grimholt, Runa Marie, Larstorp, Anne Cecilie Kjeldsen, Urdal, Petter, Klingenberg, Olav Inge

Publikováno v: Fjeld, Bente Sudmann-Day, Åshild Amelie Grimholt, Runa Marie Larstorp, Anne Cecilie Kjeldsen Urdal, Petter Klingenberg, Olav Inge . Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis. International Jo
International Jo

Externí odkaz: http://hdl.handle.net/10852/99882

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Dissertation/ Thesis

Hemoglobinopathies gone astray: Identification and characterization of rare deletions and sequence variants in the globin genes found in Norway

Autor: Grimholt, Runa Marie

Externí odkaz: http://hdl.handle.net/10852/93065
https://www.duo.uio.no/bitstream/handle/10852/93065/1/PhD-Grimholt-2022.pdf

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Akademický článek

Hemoglobinopathy gone astray—three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing

Autor: Grimholt, Runa Marie, Fjeld, Bente, Klingenberg, Olav

Publikováno v: Grimholt, Runa Marie Fjeld, Bente Klingenberg, Olav . Hemoglobinopathy gone astray—three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing. Scandinavian Jo
Scandinavian Jo

Externí odkaz: http://hdl.handle.net/10852/92954
https://www.duo.uio.no/bitstream/handle/10852/92954/1/Postnr%2B1963706_Grimholt%2Bet%2Bal_Scand%2BJ%2BClin%2BLab%2BInvest%2B2021.pdf

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Akademický článek

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Autor: Georgina, Martin, Grimholt, Runa Marie, Le, Doan, Bechensteen, Anne Grete, Klingenberg, Olav Inge, Fjeld, Bente, Fourie, Thomas, Perrier, Renee, Proven, Melanie, Henderson, Shirley J, Roy, Noémi B A

Publikováno v: Georgina, Martin Grimholt, Runa Marie Le, Doan Bechensteen, Anne Grete Klingenberg, Olav Inge Fjeld, Bente Fourie, Thomas Perrier, Renee Proven, Melanie Henderson, Shirley J Roy, Noémi B A . Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype. Hemoglobin. 2021, 45(4), 215-219
Hemoglobin

Externí odkaz: http://hdl.handle.net/10852/93626
https://www.duo.uio.no/bitstream/handle/10852/93626/1/Postnr%2B1976292_Georgina%2Bet%2Bal_Hemoglobin%2Barticle%2B2021.pdf

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Akademický článek

Hb Aalesund (HBA2: c.400_406delAGCACCG), an Unstable α-Globin Variant Found in a Norwegian Patient Causing Moderate Hemolytic Anemia and Falsely High Hb A1c Using Ion Exchange High Performance Liquid Chromatography.

Autor: Grimholt, Runa Marie, Fjeld, Bente, Selsås, Hilde, Schwettmann, Lutz, Klingenberg, Olav

Externí odkaz: https://hdl.handle.net/10642/7675

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Akademický článek

Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A novel unstable hemoglobin variant found in a Norwegian patient

Autor: Grimholt, Runa Marie, Vestli, Anne, Urdal, Petter, Bechensteen, Anne Grete, Fjeld, Bente, Dalhus, Bjørn, Klingenberg, Olav

Publikováno v: Grimholt, Runa Marie Vestli, Anne Urdal, Petter Bechensteen, Anne Grete Fjeld, Bente Dalhus, Bjørn Klingenberg, Olav . Hb Oslo [β42(CD1)Phe→Ile; HBB: c.127T>A]: A novel unstable hemoglobin variant found in a Norwegian patient. Hemoglobin. 2018, 42(2), 78-83
Hemoglobin

Externí odkaz: http://hdl.handle.net/10852/72649
https://www.duo.uio.no/bitstream/handle/10852/72649/1/Fulltekst_HbOslo.pdf

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Akademický článek

Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance

Autor: Grimholt, Runa Marie, Harteveld, Cornelis, Arkesteijn, Sandra G J, Fjeld, Bente, Klingenberg, Olav

Publikováno v: Grimholt, Runa Marie Harteveld, Cornelis Arkesteijn, Sandra G J Fjeld, Bente Klingenberg, Olav . Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance. Hemoglobin. 2018, 42(2), 126-128
Hemoglobin

Externí odkaz: http://hdl.handle.net/10852/72997
https://www.duo.uio.no/bitstream/handle/10852/72997/1/FINAL-LHEM-42-2-2018-0047-Grimholt.pdf

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