Search Results - Hantmann, Elena

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  1. 1
    Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery

    Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery by Scherer, Lotte, Schönauer, Ria, Nemitz-Kliemchen, Melanie, Hagemann, Tobias, Hantmann, Elena, de Fallois, Jonathan, Petzold, Friederike, Blüher, Matthias, Halbritter, Jan

    Published in Scientific reports
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  2. 2
    Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis

    Modelling polycystic liver disease progression using age-adjusted liver volumes and targeted mutational analysis by Sierks, Dana, Schönauer, Ria, Friedrich, Anja, Hantmann, Elena, de Fallois, Jonathan, Linder, Nikolas, Fischer, Janett, Herber, Adam, Bergmann, Carsten, Berg, Thomas, Halbritter, Jan

    Published in JHEP reports
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  3. 3
    FC 014INFLUENCE OF GENETIC VARIATION IN SLC7A13 /AGT1 IN HUMAN CYSTINURIA

    FC 014INFLUENCE OF GENETIC VARIATION IN SLC7A13 /AGT1 IN HUMAN CYSTINURIA by Schönauer, Ria, Seidel, Anna, Pöschla, Linda, Hantmann, Elena, Bekri, Soumeya, Knebelmann, Bertrand, Sayer, John, Ohgaki, Ryuichi, Halbritter, Jan

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  4. 4
    MO049FUNCTIONAL IMPORTANCE OF  MAPKBP1  PROTEIN DOMAINS IN NEPHRONOPHTHISIS

    MO049FUNCTIONAL IMPORTANCE OF  MAPKBP1  PROTEIN DOMAINS IN NEPHRONOPHTHISIS by Hartig, Christin, Schönauer, Ria, Sewerin, Sebastian, Ertel, Anastasia, Jin, Wenjun, Hantmann, Elena, Saunier, Sophie, Benmerah, Alexandre, Halbritter, Jan

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  5. 5
    Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia

    Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia by Petzold, Friederike, Jin, Wenjun, Hantmann, Elena, Korbach, Katharina, Schönauer, Ria, Halbritter, Jan

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  6. 6
    Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability

    Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability by Schönauer, Ria, Scherer, Lotte, Nemitz‐Kliemchen, Melanie, Hagemann, Tobias, Hantmann, Elena, Seidel, Anna, Müller, Luise, Kehr, Stephanie, Voigt, Cornelia, Stolzenburg, Jens‐Uwe, Halbritter, Jan

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  7. 7
    Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

    Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions by Schönauer, Ria, Jin, Wenjun, Findeisen, Christin, Valenzuela, Irene, Devlin, Laura Alice, Murrell, Jill, Bedoukian, Emma C., Pöschla, Linda, Hantmann, Elena, Riedhammer, Korbinian M., Hoefele, Julia, Platzer, Konrad, Biemann, Ronald, Campeau, Philipp M., Münch, Johannes, Heyne, Henrike, Hoffmann, Anne, Ghosh, Adhideb, Sun, Wenfei, Dong, Hua, Noé, Falko, Wolfrum, Christian, Woods, Emily, Parker, Michael J., Neatu, Ruxandra, Le Guyader, Gwenael, Bruel, Ange-Line, Perrin, Laurence, Spiewak, Helena, Missotte, Isabelle, Fourgeaud, Melanie, Michaud, Vincent, Lacombe, Didier, Paolucci, Sarah A., Buchan, Jillian G., Glissmeyer, Margaret, Popp, Bernt, Blüher, Matthias, Sayer, John A., Halbritter, Jan

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