Search Results - "Nielsen, Marlene Louise"

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    P0036THE EFFECT OF CKD ASSOCIATED SNPS ON THE PROGRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE by Nielsen, Marlene Louise, Lildballe, Dorte Launholt, Jørgensen, Mads, Rasmussen, Maria, Birn, Henrik

    Published in Nephrology, dialysis, transplantation (01-06-2020)
    “…Abstract Background and Aims Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent, inherited, cystic kidney disease. It is characterized…”
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    Journal Article
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    PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability by Rasmussen, Maria, Nielsen, Marlene Louise, Manak, J Robert, Mogensen, Helle, Lildballe, Dorte L

    Published in Clinical kidney journal (01-02-2021)
    “…Pathogenic variants in have previously been associated with renal coloboma syndrome. Here we present a novel variant c.68T>C associated with bilateral kidney…”
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    Journal Article
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