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Gruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2021
Abicht, Angela; Schön, Ulrike; Laner, Andreas; Holinski-Feder, Elke und Diebold, Isabel
(2021):
Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.
In: Cardiovascular Diagnosis and Therapy, Bd. 11, Nr. 2:
637-
Schön, Ulrike; Holzer, Anna; Laner, Andreas; Kleinle, Stephanie; Scharf, Florentine; Benet-Pages, Anna; Peschel, Oliver; Holinski-Feder, Elke und Diebold, Isabel
(2021):
HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.
In: BMC Medical Genomics, Bd. 14, Nr. 1, 94
2019
Diebold, Isabel; Schön, Ulrike; Horvath, Rita; Schwartz, Oliver; Holinski-Feder, Elke; Koelbel, Heike und 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, Bd. 44: S. 14-20
2018
Abicht, Angela; Scharf, Florentine; Kleinle, Stephanie; Schön, Ulrike; Holinski-Feder, Elke; Horvath, Rita; Benet-Pages, Anna und 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
2016
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 und Ylikallio, Emil
(2016):
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.
In: Neuromolecular Medicine, Bd. 18, Nr. 1: S. 81-90