Array genotyping as diagnostic approach in medical genetics

por Witsch‐Baumgartner, Martina, Schwaninger, Gunda, Schnaiter, Simon, Kollmann, Franziska, Burkhard, Silja, Gröbner, Rebekka, Mühlegger, Beatrix, Schamschula, Esther, Kirchmeier, Peter, Zschocke, Johannes
Publicado 2022

Porokeratosis Plantaris, Palmaris et Disseminata Caused by Congenital Pathogenic Variants in the MVD Gene and Loss of Heterozygosity in Affected Skin

por JÄGLE, Sabine, JURATLI, Hazem A., HICKMAN, Geoffroy, SÜSSMUTH, Kira, BOENTE, Maria C., KOPP, Julia, KIRCHMEIER, Peter, ZIMMER, Andreas, HAPPLE, Rudolf, BOURRAT, Emmanuelle, HAMM, Henning, FISCHER, Judith
Publicado 2021

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

por Radner, Franz P. W., Marrakchi, Slaheddine, Kirchmeier, Peter, Kim, Gwang-Jin, Ribierre, Florence, Kamoun, Bourane, Abid, Leila, Leipoldt, Michael, Turki, Hamida, Schempp, Werner, Heilig, Roland, Lathrop, Mark, Fischer, Judith
Publicado 2013

Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

por Radner, Franz P. W., Marrakchi, Slaheddine, Kirchmeier, Peter, Kim, Gwang-Jin, Ribierre, Florence, Kamoun, Bourane, Abid, Leila, Leipoldt, Michael, Turki, Hamida, Schempp, Werner, Heilig, Roland, Lathrop, Mark, Fischer, Judith
Publicado 2013