Hasil Pencarian - Asbjørg Stray‐Pedersen

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  1. 1
    Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS

    Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS oleh Silje Hogner, Emma Lundman, Janne Strand, Mari Eknes Ytre-Arne, Trine Tangeraas, Asbjørg Stray-Pedersen

    Diterbitkan 2023-12-01
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  2. 2
    Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation

    Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation oleh Galina Tsykunova, Erle Kristensen, Asbjørg Stray-Pedersen, Øyvind Bruserud, Ida Wiig Sørensen, Øystein Bruserud, Tor Henrik Anderson Tvedt

    Diterbitkan 2023-12-01
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  3. 3
    Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168

    Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168 oleh Ivan K. Chinn, Ivan K. Chinn, Ivan K. Chinn, Robert P. Sanders, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen, Zeynep H. Coban-Akdemir, Zeynep H. Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Harjit Dadi, Chaim M. Roifman, Chaim M. Roifman, Troy Quigg, James R. Lupski, James R. Lupski, James R. Lupski, James R. Lupski, Jordan S. Orange, Jordan S. Orange, Jordan S. Orange, I. Celine Hanson, I. Celine Hanson

    Diterbitkan 2017-05-01
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  4. 4
    Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

    Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation oleh Inger Marie Skogseid, Oddveig Røsby, Ane Konglund, James P. Connelly, Bård Nedregaard, Greg Eigner Jablonski, Nadja Kvernmo, Asbjørg Stray-Pedersen, Joel C. Glover

    Diterbitkan 2018-05-01
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  5. 5
    Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas

    Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas oleh Børre Fevang, Unn Merete Fagerli, Hanne Sorte, Harald Aarset, Håkon Hov, Marit Langmyr, Thomas Morten Keil, Ellen Bjørge, Pål Aukrust, Asbjørg Stray-Pedersen, Tobias Gedde-Dahl

    Diterbitkan 2018-01-01
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  6. 6
    How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms

    How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms oleh Panagiotis Baliakas, Bianca Tesi, Jörg Cammenga, Asbjørg Stray‐Pedersen, Kirsi Jahnukainen, Mette Klarskov Andersen, Helena Ågerstam, Maria Creignou, Ingunn Dybedal, Klas Raaschou‐Jensen, Kirsten Grønbæk, Outi Kilpivaara, Eva Hellström Lindberg, Ulla Wartiovaara‐Kautto

    Diterbitkan 2024-08-01
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  7. 7
    Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency

    Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency oleh Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Hans Christian Erichsen, Emma Lundman, Mona C. Berge, Anette K. Trømborg, Linda K. Sørgjerd, Mari Ytre-Arne, Silje Hogner, Ruth Halsne, Ruth Halsne, Hege Junita Gaup, Liv T. Osnes, Grete A. B. Kro, Hanne S. Sorte, Lars Mørkrid, Alexander D. Rowe, Trine Tangeraas, Trine Tangeraas, Jens V. Jørgensen, Jens V. Jørgensen, Charlotte Alme, Trude E. H. Bjørndalen, Arild E. Rønnestad, Astri M. Lang, Terje Rootwelt, Terje Rootwelt, Jochen Buechner, Torstein Øverland, Tore G. Abrahamsen, Tore G. Abrahamsen, Rolf D. Pettersen, Asbjørg Stray-Pedersen, Asbjørg Stray-Pedersen

    Diterbitkan 2020-07-01
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  8. 8
    Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up

    Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up oleh Panagiotis Baliakas, Bianca Tesi, Ulla Wartiovaara-Kautto, Asbjørg Stray-Pedersen, Lone Smidstrup Friis, Ingunn Dybedal, Randi Hovland, Kirsi Jahnukainen, Klas Raaschou-Jensen, Per Ljungman, Cecilie F. Rustad, Charlotte K. Lautrup, Outi Kilpivaara, Astrid Olsnes Kittang, Kirsten Grønbæk, Jörg Cammenga, Eva Hellström-Lindberg, Mette K. Andersen

    Diterbitkan 2019-12-01
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  9. 9
    Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

    Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses oleh Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve T. Bliksrud, Carlos Sagredo, Øyvind E. Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre-Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, Hege J. Gaup, Rina Lilje, Rolf H. Zetterström, Asbjørg Stray-Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen

    Diterbitkan 2020-06-01
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