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

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Missense exchanges in the TTBK2 gene mutated in SCA11 von Edener, Ulf, Kurth, Ingo, Meiner, Annechristin, Hoffmann, Frank, Hübner, Christian A., Bernard, Veronica, Gillessen-Kaesbach, Gabriele, Zühlke, Christine

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De novo complete trisomy 5p: Clinical report and FISH studies von Reichenbach, Herbert, Holland, Heidrun, Dalitz, Elisabeth, Demandt, Catrin, Meiner, Annechristin, Chudoba, Ilse, Lemke, Johannes, Claussen, Uwe, Froster, Ursula G.

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