Rare Copy Number Variants Are a Common Cause of Short Stature

по Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B., Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T.
Опубликовано 2013

SOS1 is the second most common Noonan gene but plays no major role in cardio‐facio‐cutaneous syndrome

по Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth‐Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen‐Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars‐Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin
Опубликовано 2007

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

по Hauer, Nadine N., Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai S., Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif B., De Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman R., Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian T.
Опубликовано в: Eur J Hum Genet (2019)