De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi‐Hünermann‐Happle syndrome

por Soler‐Cardona, Ana, Brandau, Oliver, Laccone, Franco, Tanew, Adrian, Radakovic, Sonja
Publicado 2019

Human amniotic fluid stem cells as a model for functional studies of genes involved in human genetic diseases or oncogenesis

por Rosner, Margit, Dolznig, Helmut, Schipany, Katharina, Mikula, Mario, Brandau, Oliver, Hengstschläger, Markus
Publicado 2011

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill–Marchesani syndrome

por Steinkellner, Hannes, Etzler, Julia, Gogoll, Laura, Neesen, Jürgen, Stifter, Eva, Brandau, Oliver, Laccone, Franco
Publicado 2015

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

por Shukla, Anju, Hebbar, Malavika, Srivastava, Anshika, Kadavigere, Rajagopal, Upadhyai, Priyanka, Kanthi, Anil, Brandau, Oliver, Bielas, Stephanie, Girisha, Katta M
Publicado 2017

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

por Cozma, Claudia, Iurașcu, Marius-Ionuț, Eichler, Sabrina, Hovakimyan, Marina, Brandau, Oliver, Zielke, Susanne, Böttcher, Tobias, Giese, Anne-Katrin, Lukas, Jan, Rolfs, Arndt
Publicado 2017

ESAM supports neutrophil extravasation, activation of Rho, and VEGF-induced vascular permeability

por Wegmann, Frank, Petri, Björn, Khandoga, Alexander Georg, Moser, Christian, Khandoga, Andrej, Volkery, Stefan, Li, Hang, Nasdala, Ines, Brandau, Oliver, Fässler, Reinhard, Butz, Stefan, Krombach, Fritz, Vestweber, Dietmar
Publicado 2006

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report

por Ratnasamy, Vithiya, Navaneethakrishnan, Suganthan, Sirisena, Nirmala Dushyanthi, Grüning, Nana-Maria, Brandau, Oliver, Thirunavukarasu, Kumanan, Dagnall, Casey L., McReynolds, Lisa J., Savage, Sharon A., Dissanayake, Vajira H. W.
Publicado 2018

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

por Trujillano, Daniel, Bertoli-Avella, Aida M, Kumar Kandaswamy, Krishna, Weiss, Maximilian ER, Köster, Julia, Marais, Anett, Paknia, Omid, Schröder, Rolf, Garcia-Aznar, Jose Maria, Werber, Martin, Brandau, Oliver, Calvo del Castillo, Maria, Baldi, Caterina, Wessel, Karen, Kishore, Shivendra, Nahavandi, Nahid, Eyaid, Wafaa, Al Rifai, Muhammad Talal, Al-Rumayyan, Ahmed, Al-Twaijri, Waleed, Alothaim, Ali, Alhashem, Amal, Al-Sannaa, Nouriya, Al-Balwi, Mohammed, Alfadhel, Majid, Rolfs, Arndt, Abou Jamra, Rami
Publicado 2017