Hasil Pencarian - Pernille Mathiesen Torring

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  1. 1
    Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review

    Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review oleh Anna Trier Heiberg Brix, Pernille Mathiesen Tørring, Anette Bygum

    Diterbitkan 2022-03-01
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  2. 2
    Comorbidity among HHT patients and their controls in a 20 years follow-up period

    Comorbidity among HHT patients and their controls in a 20 years follow-up period oleh Katrine Saldern Aagaard, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring, Anders Green

    Diterbitkan 2018-12-01
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  3. 3
    20-year follow-up study of Danish HHT patients—survival and causes of death

    20-year follow-up study of Danish HHT patients—survival and causes of death oleh Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller, Anders Green

    Diterbitkan 2016-11-01
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  4. 4
    Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death

    Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death oleh Ieva Miceikaite, Geske Sidsel Bak, Martin Jakob Larsen, Britta Schlott Kristiansen, Pernille Mathiesen Torring

    Diterbitkan 2021-07-01
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  5. 5
    A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

    A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly oleh Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen

    Diterbitkan 2019-06-01
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  6. 6
    Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study

    Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study oleh Anne Marie Jelsig, Niels Qvist, Birgitte Bertelsen, Lise-Lotte Christensen, Hanne Grossjohan, Charlotte Kvist Lautrup, Lone Sunde, Pernille Mathiesen Tørring, Ken Ljungman, Louise Torp Christensen, John Gásdal Karstensen

    Diterbitkan 2022-12-01
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