Search Results - Schell-Apacik, Chayim
- Showing 1 - 5 results of 5
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1
Maternally Inherited Heterozygous Sequence Change in the Sonic Hedgehog Gene in a Male Patient with Bilateral Closed-Lip Schizencephaly and Partial Absence of the Corpus Callosum by Schell-Apacik, Chayim Can, Ertl-Wagner, Birgit, Panzel, Axel, Klausener, Kerstin, Rausch, Gisbert, Muenke, Maximilian, von Voss, Hubertus, Hehr, Ute
Published 2009Text -
2
Agenesis and Dysgenesis of the Corpus Callosum: Clinical, Genetic and Neuroimaging Findings in a Series of 41 Patients by Schell-Apacik, Chayim Can, Wagner, Kristina, Bihler, Moritz, Ertl-Wagner, Birgit, Heinrich, Uwe, Klopocki, Eva, Kalscheuer, Vera M., Muenke, Maximilian, von Voss, Hubertus
Published 2008Text -
3
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly by Hehr, Ute, Pineda-Alvarez, Daniel E., Uyanik, Goekhan, Hu, Ping, Zhou, Nan, Hehr, Andreas, Schell-Apacik, Chayim, Altus, Carola, Daumer-Haas, Cornelia, Meiner, Annechristin, Steuernagel, Peter, Roessler, Erich, Winkler, Juergen, Muenke, Maximilian
Published 2010Text -
4
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies by Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Börger, Doris, Bohring, Axel, Schreml, Julia, Körtge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nürnberg, Gudrun, Nürnberg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit, Bolz, Hanno J.
Published 2013Text -
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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals by Solomon, Benjamin D., Lacbawan, Felicitas, Mercier, Sandra, Clegg, Nancy J., Delgado, Mauricio R., Rosenbaum, Kenneth, Dubourg, Christèle, David, Véronique, Olney, Ann Haskins, Wehner, Lars-Erik, Hehr, Ute, Bale, Sherri, Paulussen, Aimee, Smeets, Hubert J., Hardisty, Emily, Tylki-Szymanska, Anna, Pronicka, Ewa, Clemens, Michelle, Mcpherson, Elizabeth, Hennekam, Raoul Cm, Hahn, Jin, Stashinko, Elaine, Levey, Eric, Wieczorek, Dagmar, Roeder, Elizabeth, Schell-Apacik, Chayim Can, Booth, Carol W., Thomas, Ronald L., Kenwrick, Sue, Keaton, Amelia, Balog, Joan Z., Hadley, Donald, Zhou, Nan, Long, Robert, Velez, Jorge I., Pineda-Alvarez, Daniel E., Odent, Sylvie, Roessler, Erich, Muenke, Maximilian
Published 2010Text