Resultats de la cerca - Schell-Apacik, Chayim

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet

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 per 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.

Obtenir text complet Obtenir text complet Obtenir text complet

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

Obtenir text complet Obtenir text complet Obtenir text complet