检索结果 - Schell-Apacik, Chayim

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  1. 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

    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 由 Schell-Apacik, Chayim Can, Ertl-Wagner, Birgit, Panzel, Axel, Klausener, Kerstin, Rausch, Gisbert, Muenke, Maximilian, von Voss, Hubertus, Hehr, Ute

    出版 2009
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  2. 2
    Agenesis and Dysgenesis of the Corpus Callosum: Clinical, Genetic and Neuroimaging Findings in a Series of 41 Patients

    Agenesis and Dysgenesis of the Corpus Callosum: Clinical, Genetic and Neuroimaging Findings in a Series of 41 Patients 由 Schell-Apacik, Chayim Can, Wagner, Kristina, Bihler, Moritz, Ertl-Wagner, Birgit, Heinrich, Uwe, Klopocki, Eva, Kalscheuer, Vera M., Muenke, Maximilian, von Voss, Hubertus

    出版 2008
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  3. 3
    Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

    Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly 由 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

    出版 2010
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  4. 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

    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 由 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.

    出版 2013
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  5. 5
    Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

    Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals 由 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

    出版 2010
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