The AE4 transporter mediates kidney acid-base sensing
Vitzthum, H, Koch, M, Eckermann, L, Svendsen, S L, Berg, P, Hübner, C A, Wagner, C A, Leipziger, J, Meyer-Schwesinger, C, Ehmke, H
Published in Nature communications (26.05.2023)
Published in Nature communications (26.05.2023)
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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
Schulz, AL, Albrecht, B, Arici, C, Van Der Burgt, I, Buske, A, Gillessen-Kaesbach, G, Heller, R, Horn, D, Hübner, CA, Korenke, GC, König, R, Kress, W, Krüger, G, Meinecke, P, Mücke, J, Plecko, B, Rossier, E, Schinzel, A, Schulze, A, Seemanova, E, Seidel, H, Spranger, S, Tuysuz, B, Uhrig, S, Wieczorek, D, Kutsche, K, Zenker, M
Published in Clinical genetics (01.01.2008)
Published in Clinical genetics (01.01.2008)
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Mutations in CRLF1 cause familial achalasia
Busch, A., Žarković, M., Lowe, C., Jankofsky, M., Ganschow, R., Buers, I., Kurth, I., Reutter, H., Rutsch, F., Hübner, C.A.
Published in Clinical genetics (01.07.2017)
Published in Clinical genetics (01.07.2017)
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First HPSE2 missense mutation in urofacial syndrome
Mahmood, S, Beetz, C, Tahir, MM, Imran, M, Mumtaz, R, Bassmann, I, Jahic, A, Malik, M, Nürnberg, G, Hassan, SAA, Rana, S, Nürnberg, P, Hübner, CA
Published in Clinical genetics (01.01.2012)
Published in Clinical genetics (01.01.2012)
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A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27
Neubauer, B A, Stefanova, I, Hübner, C A, Neumaier-Probst, E, Bohl, J, Oppermann, H C, Stö, H, Hahn, A, Stephani, U, Kohlschütter, A, Gal, A
Published in Neurology (22.08.2006)
Published in Neurology (22.08.2006)
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Expression of the sodium-driven chloride bicarbonate exchanger NCBE during prenatal mouse development
Hübner, C.A., Hentschke, M., Jacobs, S., Hermans-Borgmeyer, I.
Published in Gene Expression Patterns (01.12.2004)
Published in Gene Expression Patterns (01.12.2004)
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Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies
Rath, M, Najm, J, Sirb, H, Kentouche, K, Dufke, A, Pauli, S, Hackmann, K, Liehr, T, Hübner, C A, Felbor, U
Published in Hämostaseologie (01.01.2015)
Published in Hämostaseologie (01.01.2015)
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Corrigendum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy
Janecke, A R, Thompson, D A, Utermann, G, Becker, C, Hübner, C A, Schmid, E, McHenry, C L, Nair, A R, Rüschendorf, F, Heckenlively, J, Wissinger, B, Nürnberg, P, Gal, A
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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Leukoencephalopathy upon Disruption of the Chloride Channel ClC-2
Blanz, Judith, Schweizer, Michaela, Auberson, Muriel, Maier, Hannes, Muenscher, Adrian, Hubner, Christian A, Jentsch, Thomas J
Published in The Journal of neuroscience (13.06.2007)
Published in The Journal of neuroscience (13.06.2007)
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Expression of anion exchanger 3 influences respiratory rate in awake and isoflurane anesthetized mice
Meier, S, Hübner, C A, Groeben, H, Peters, J, Bingmann, D, Wiemann, M
Published in Journal of physiology and pharmacology : an official journal of the Polish Physiological Society (01.11.2007)
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Published in Journal of physiology and pharmacology : an official journal of the Polish Physiological Society (01.11.2007)
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Erratum: Corrigendum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy
Janecke, A R, Thompson, D A, Utermann, G, Becker, C, Hübner, C A, Schmid, E, McHenry, C L, Nair, A R, Rüschendorf, F, Heckenlively, J, Wissinger, B, Nürnberg, P, Gal, A
Published in Nature genetics (01.09.2004)
Published in Nature genetics (01.09.2004)
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