![]() | Up a level |
Diebold, Isabel; Schön, Ulrike; Horvath, Rita; Schwartz, Oliver; Holinski-Feder, Elke; Koelbel, Heike; Abicht, Angela (2019): HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing. In: Molecular and Cellular Probes, Vol. 44: pp. 14-20
Abicht, Angela; Scharf, Florentine; Kleinle, Stephanie; Schön, Ulrike; Holinski-Feder, Elke; Horvath, Rita; Benet-Pages, Anna; Diebold, Isabel (2018): Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method. In: Molecular Genetics & Genomic Medicine
Suriyanarayanan, Saranya; Auranen, Mari; Toppila, Jussi; Paetau, Anders; Shcherbii, Maria; Palin, Eino; Wei, Yu; Lohioja, Tarja; Schlotter-Weigel, Beate; Schön, Ulrike; Abicht, Angela; Rautenstrauss, Bernd; Tyynismaa, Henna; Walter, Maggie C.; Hornemann, Thorsten; Ylikallio, Emil (2016): The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. In: Neuromolecular Medicine, Vol. 18, No. 1: pp. 81-90