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Group by: Item Type | Date
Jump to: 2021 | 2019 | 2018 | 2016
Number of items: 5.

2021

Abicht, Angela; Schön, Ulrike; Laner, Andreas; Holinski-Feder, Elke and Diebold, Isabel (2021): Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling. In: Cardiovascular Diagnosis and Therapy, Vol. 11, No. 2: pp. 637-649

Schön, Ulrike; Holzer, Anna; Laner, Andreas; Kleinle, Stephanie; Scharf, Florentine; Benet-Pages, Anna; Peschel, Oliver; Holinski-Feder, Elke and Diebold, Isabel (2021): HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death. In: BMC Medical Genomics, Vol. 14, No. 1, 94

2019

Diebold, Isabel; Schön, Ulrike; Horvath, Rita; Schwartz, Oliver; Holinski-Feder, Elke; Koelbel, Heike and 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

2018

Abicht, Angela; Scharf, Florentine; Kleinle, Stephanie; Schön, Ulrike; Holinski-Feder, Elke; Horvath, Rita; Benet-Pages, Anna and 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 and 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

This list was generated on Sun Sep 17 02:37:20 2023 CEST.