Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories
Witzel, Maximilian G W, Gebhard, Christian, Wenzel, Sören, Kleier, Saskia, Eichhorn, Birgit, Lorenz, Peter, von der Heyden, Laura, Kuhn, Marius, Luedeke, Manuel, Döcker, Miriam, Jüngling, Jerome, Schulte, Björn, Hörtnagel, Konstanze, Glaubitz, Ralf, Knippenberger, Sarah, Teubert, Anna, Abicht, Angela, Neuhann, Teresa M
Published in Frontiers in neurology (06.12.2023)
Published in Frontiers in neurology (06.12.2023)
Get full text
Journal Article
Position für einen neuen Vorstand des BVDH
Published in Medizinische Genetik
(01.06.2021)
Get full text
Journal Article
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome
HORN, Denise, CHYREK, Magdalena, WIECZOREK, Dagmar, GILLESSEN-KAESBACH, Gabriele, KUTSCHE, Kerstin, KLEIER, Saskia, LÜTTGEN, Sabine, BOLZ, Hanno, HINKEL, Georg-Klaus, KORENKE, Georg Christoph, RIESS, Angelika, SCHELL-APACIK, Can, TINSCHERT, Sigrid
Published in European journal of human genetics : EJHG (01.05.2005)
Published in European journal of human genetics : EJHG (01.05.2005)
Get full text
Journal Article
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome
Kleier, Saskia, Herrmann, M, Wittwer, B, Varon, R, Reis, A, Horst, J
Published in Clinical genetics (01.05.2000)
Published in Clinical genetics (01.05.2000)
Get full text
Journal Article