Search Results - Utermann, Gerd
- Showing 1 - 17 results of 17
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Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation by Frühmesser, Anne, Blake, Jonathon, Haberlandt, Edda, Baying, Bianka, Raeder, Benjamin, Runz, Heiko, Spreiz, Ana, Fauth, Christine, Benes, Vladimir, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter
Published 2013Text -
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A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region by Coassin, Stefan, Schönherr, Sebastian, Weissensteiner, Hansi, Erhart, Gertraud, Forer, Lukas, Losso, Jamie Lee, Lamina, Claudia, Haun, Margot, Utermann, Gerd, Paulweber, Bernhard, Specht, Günther, Kronenberg, Florian
Published 2019Text -
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Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency by Hancock, Angela M., Witonsky, David B., Ehler, Edvard, Alkorta-Aranburu, Gorka, Beall, Cynthia, Gebremedhin, Amha, Sukernik, Rem, Utermann, Gerd, Pritchard, Jonathan, Coop, Graham, Di Rienzo, Anna
Published 2010Text -
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Adaptations to Climate-Mediated Selective Pressures in Humans by Hancock, Angela M., Witonsky, David B., Alkorta-Aranburu, Gorka, Beall, Cynthia M., Gebremedhin, Amha, Sukernik, Rem, Utermann, Gerd, Pritchard, Jonathan K., Coop, Graham, Di Rienzo, Anna
Published 2011Text -
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Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome by Dündar, Munis, Müller, Thomas, Zhang, Qi, Pan, Jing, Steinmann, Beat, Vodopiutz, Julia, Gruber, Robert, Sonoda, Tohru, Krabichler, Birgit, Utermann, Gerd, Baenziger, Jacques U., Zhang, Lijuan, Janecke, Andreas R.
Published 2009Text -
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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations by Miltenberger-Miltenyi, Gabriel, Schwarzbraun, Thomas, Löscher, Wolfgang N, Wanschitz, Julia, Windpassinger, Christian, Duba, Hans-Christoph, Seidl, Rainer, Albrecht, Gerhard, Weirich-Schwaiger, Helga, Zoller, Heinz, Utermann, Gerd, Auer-Grumbach, Michaela, Janecke, Andreas R
Published 2009Text -
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Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein by Clayton, Peter, Fischer, Björn, Mann, Anuska, Mansour, Sahar, Rossier, Eva, Veen, Markus, Lang, Christine, Baasanjav, Sevjidmaa, Kieslich, Moritz, Brossuleit, Katja, Gravemann, Sophia, Schnipper, Nele, Karbasyian, Mohsen, Demuth, Ilja, Zwerger, Monika, Vaya, Amparo, Utermann, Gerd, Mundlos, Stefan, Stricker, Sigmar, Sperling, Karl, Hoffmann, Katrin
Published 2010Text -
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A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction by Coassin, Stefan, Erhart, Gertraud, Weissensteiner, Hansi, Eca Guimarães de Araújo, Mariana, Lamina, Claudia, Schönherr, Sebastian, Forer, Lukas, Haun, Margot, Losso, Jamie Lee, Köttgen, Anna, Schmidt, Konrad, Utermann, Gerd, Peters, Annette, Gieger, Christian, Strauch, Konstantin, Finkenstedt, Armin, Bale, Reto, Zoller, Heinz, Paulweber, Bernhard, Eckardt, Kai-Uwe, Hüttenhofer, Alexander, Huber, Lukas A., Kronenberg, Florian
Published 2017Text -
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Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea by 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 2009Text -
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TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone by Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Müller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nürnberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A., Boycott, Kym M.
Published 2011Text