Browsing by Author Adenaeuer, Anke

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adenaeuer_anke-c.451dupt_in_k-20210705110824798.pdf.jpg20215-Jul-2021c.451dupT in KLKB1 is common in Nigerians, confirming a higher prevalence of severe prekallikrein deficiency in Africans compared to EuropeansAdenaeuer, Anke; Ezigbo, D. Eyiuche; Nazir, Hanan Fawzy; Barco, Stefano; Trinchero, Alice; Laubert-Reh, Dagmar; Strauch, Konstantin; Wild, Philipp S.; Lackner, Karl J.; Lämmle, Bernhard; Rossmann, Heidi
hereditary_spherocytosis__can-20231206105835093.pdf.jpg202315-Dec-2023Hereditary spherocytosis : can next-generation sequencing of the five most frequently affected genes replace time-consuming functional investigations?Häuser, Friederike; Rossmann, Heidi; Adenaeuer, Anke; Shrestha, Annette; Marandiuc, Dana; Paret, Claudia; Faber, Jörg; Lackner, Karl J.; Lämmle, Bernhard; Beck, Olaf
second_mafa_variant_causing_a-20220523104508147.pdf.jpg202220-Dec-2022Second MAFA variant causing a phosphorylation defect in the transactivation domain and familial insulinomatosisFottner, Christian; Sollfrank, Stefanie; Ghiasi, Mursal; Adenaeuer, Anke; Musholt, Thomas; Schad, Arno; Miederer, Matthias; Schadmand-Fischer, Simin; Weber, Matthias M.; Lackner, Karl J.; Rossmann, Heidi
barco_stefano-severe_plasma_-20210817090751895.pdf.jpg202017-Aug-2021Severe plasma prekallikrein deficiency : clinical characteristics, novel KLKB1 mutations, and estimated prevalenceBarco, Stefano; Sollfrank, Stefanie; Trinchero, Alice; Adenaeuer, Anke; AbolghasemI, Hassan; Conti, Laura; Häuser, Friederike; Kremer Hovinga, Johanna A.; Lackner, Karl J.; Loewecke, Felicia; Miloni, Erwin; Vazifeh Shiran, Nader; Tomao, Luigi; Wuillemin, Walter A.; Zieger, Barbara; Lämmle, Bernhard; Rossmann, Heidi