檢索結果 - Utermann, Gerd

Genetics of the apolipoprotein E-system in man 由 Utermann, Gerd, Langenbeck, Ulrich, Beisiegel, Ulrike, Weber, Wilfried

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Sequence Variation within the KIV-2 Copy Number Polymorphism of the Human LPA Gene in African, Asian, and European Populations 由 Noureen, Asma, Fresser, Friedrich, Utermann, Gerd, Schmidt, Konrad

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Structure, function, and genetics of lipoprotein (a) 由 Schmidt, Konrad, Noureen, Asma, Kronenberg, Florian, Utermann, Gerd

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Molecular genetics and structural genomics of the human protein kinase C gene module 由 Kofler, Kurt, Erdel, Martin, Utermann, Gerd, Baier, Gottfried

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Refinement of the GINGF3 locus for hereditary gingival fibromatosis 由 Pampel, Michael, Maier, Sandra, Kreczy, Alfons, Weirich-Schwaiger, Helga, Utermann, Gerd, Janecke, Andreas R.

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X-Linked MTMR8 Diversity and Evolutionary History of Sub-Saharan Populations 由 Labuda, Damian, Yotova, Vania, Lefebvre, Jean-François, Moreau, Claudia, Utermann, Gerd, Williams, Scott M.

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Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome 由 Fitzky, Barbara U., Witsch-Baumgartner, Martina, Erdel, Martin, Lee, Joon No, Paik, Young-Ki, Glossmann, Hartmut, Utermann, Gerd, Moebius, Fabian F.

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Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation 由 Frühmesser, Anne, Blake, Jonathon, Haberlandt, Edda, Baying, Bianka, Raeder, Benjamin, Runz, Heiko, Spreiz, Ana, Fauth, Christine, Benes, Vladimir, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter

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A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region 由 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

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Human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency 由 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

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Adaptations to Climate-Mediated Selective Pressures in Humans 由 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

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Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome 由 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.

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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations 由 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

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Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein 由 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

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A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction 由 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

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Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea 由 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.

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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 由 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.

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