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Anzahl der Publikationen: 7
Zeitschriftenartikel
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-
Dzinovic, Ivana; Skorvanek, Matej; Necpal, Jan; Boesch, Sylvia; Svantnerova, Jana; Wagner, Matias; Havrankova, Petra; Pavelekova, Petra; Han, Vladimir; Janzarik, Wibke G.; Berweck, Steffen; Diebold, Isabel; Kuster, Alice; Jech, Robert; Winkelmann, Juliane und Zech, Michael
(2021):
Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.
In: Parkinsonism & Related Disorders, Bd. 90: S. 73-78
Reilich, Peter; Schlotter, Beate; Montagnese, Federica; Jordan, Berit; Stock, Friedrich; Schaeff-Vogelsang, Mario; Hotter, Benjamin; Eger, Katherina; Diebold, Isabel; Erdmann, Hannes; Becker, Kerstin; Schoen, Ulrike und Abicht, Angela
(2021):
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
In: Neuromuscular Disorders, Bd. 31, Nr. 2: S. 123-133
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
Diebold, Isabel; Schoen, Ulrike; Scharf, Florentine; Benet-Pages, Anna; Laner, Andreas; Holinski-Feder, Elke und Abicht, Angela
(2020):
Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.
In: Human Mutation, Bd. 41, Nr. 5: S. 1025-1032
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
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