Osteopoikilosis and multiple exostoses caused by novel mutations in <it>LEMD3 </it>and <it>EXT1 </it>genes respectively - coincidence within one family

by Horn Denise, Kolanczyk Mateusz, Jamsheer Aleksander, Baasanjav Sevjidmaa, Latos Tomasz, Hoffmann Katrin, Latos-Bielenska Anna, Mundlos Stefan
Published 2010-07-01

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

by Pantel, Jean Tori, Hajjir, Nurulhuda, Danyel, Magdalena, Elsner, Jonas, Abad-Perez, Angela Teresa, Hansen, Peter, Mundlos, Stefan, Spielmann, Malte, Horn, Denise, Ott, Claus-Eric, Mensah, Martin Atta
Published 2020-10-01

Expanding the clinical spectrum associated with defects in <it>CNTNAP2 </it>and <it>NRXN1</it>

by Ullmann Reinhard, Tinschert Sigrid, Prott Eva, Nagl Sandra, Maystadt Isabelle, Kohlhase Jürgen, Klapecki Jakub, Hoyer Juliane, Horn Denise, Hackmann Karl, Engels Hartmut, Ekici Arif B, Bijlsma Emilia K, Bader Ingrid, Albrecht Beate, Gregor Anne, Wohlleber Eva, Woods Geoffrey, Reis André, Rauch Anita, Zweier Christiane
Published 2011-08-01