AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect
Klee, Katharina M. C., Janecke, Andreas R., Civan, Hasret A., Rosipal, Štefan, Heinz-Erian, Peter, Huber, Lukas A., Müller, Thomas, Vogel, Georg F.
Published in Human genetics (01.10.2020)
Published in Human genetics (01.10.2020)
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Highly Elevated Plasma γ‐Glutamyltransferase Elevations: A Trait Caused by γ‐Glutamyltransferase 1 Transmembrane Mutations
Grandi, Alessandro, Franzini, Maria, Rosipal, Štefan, Rosipal, Rastislav, Debreova, Marianna, Corti, Alessandro, Ruetzler‐Dichtl, Elisabeth, Scholl‐Bürgi, Sabine, Paolicchi, Aldo, Pompella, Alfonso, Emdin, Michele, Zampa, Germano, Witt, Heiko, Zoller, Heinz, Tilg, Herbert, Mayatepek, Ertan, Herebian, Diran, Pramstaller, Peter P., Müller, Thomas, Janecke, Andreas R.
Published in Hepatology (Baltimore, Md.) (01.03.2020)
Published in Hepatology (Baltimore, Md.) (01.03.2020)
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Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea
Heinz-Erian, Peter, Müller, Thomas, Krabichler, Birgit, Schranz, Melanie, Becker, Christian, Rüschendorf, Franz, Nürnberg, Peter, Rossier, Bernard, Vujic, Mihailo, Booth, Ian W., Holmberg, Christer, Wijmenga, Cisca, Grigelioniene, Giedre, Kneepkens, C. M. Frank, Rosipal, Stefan, Mistrik, Martin, Kappler, Matthias, Michaud, Laurent, Dóczy, Ludwig-Christoph, Siu, Victoria Mok, Krantz, Marie, Zoller, Heinz, Utermann, Gerd, Janecke, Andreas R.
Published in American journal of human genetics (13.02.2009)
Published in American journal of human genetics (13.02.2009)
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Journal Article
A Speculation About Hypercholesterolemia in Congenital Analbuminemia
Rosipal, Štefan, Debreová, Marianna, Rosipal, Rastislav
Published in The American journal of medicine (01.02.2006)
Published in The American journal of medicine (01.02.2006)
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Journal Article
Analbuminemia in a Slovak Romany (gypsy) family: Case report and mutational analysis
Campagnoli, Monica, Rosipal, Štefan, Debreová, Marianna, Rosipal, Rastislav, Sala, Alberto, Romano, Assunta, Labò, Sara, Galliano, Monica, Minchiotti, Lorenzo
Published in Clinica chimica acta (01.03.2006)
Published in Clinica chimica acta (01.03.2006)
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A Novel Deficiency of Mitochondrial ATPase of Nuclear Origin
Houštek, Josef, Klement, Petr, Floryk, Daniel, Antonická, Hana, Hermanská, Jana, Kalous, Martin, Hansíková, Hana, Houšt'ková, Hana, Chowdhury, Subir K. R., Rosipal, Štefan, Kmoch, Stanislav, Stratilová, Leona, Zeman, Jirí
Published in Human molecular genetics (01.10.1999)
Published in Human molecular genetics (01.10.1999)
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Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C
Müller, Thomas, Rasool, Insha, Heinz-Erian, Peter, Mildenberger, Eva, Hülstrunk, Christian, Müller, Andreas, Michaud, Laurent, Koot, Bart G P, Ballauff, Antje, Vodopiutz, Julia, Rosipal, Stefan, Petersen, Britt-Sabina, Franke, Andre, Fuchs, Irene, Witt, Heiko, Zoller, Heinz, Janecke, Andreas R, Visweswariah, Sandhya S
Published in Gut (01.08.2016)
Published in Gut (01.08.2016)
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Journal Article
PROCESS FOR PREPARING HYPO-ALLERGIC MILK NUTRITION
ROSIPAL STEFAN RNMUDR, HERMANOVA VIERA, BOROS VLADIMIR CSC, AKURATNY ONDREJ RNDR, HERIAN KAROL CSC
Year of Publication 15.12.1993
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Year of Publication 15.12.1993
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