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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 9
Zeitschriftenartikel
Erdmann, Hannes; Scharf, Florentine; Gehling, Stefanie; Benet-Pages, Anna; Jakubiczka, Sibylle; Becker, Kerstin; Seipelt, Maria; Kleefeld, Felix; Knop, Karl Christian; Prott, Eva Christina; Hiebeler, Miriam; Montagnese, Federica; Glaeser, Dieter; Vorgerd, Matthias; Hagenacker, Tim; Walter, Maggie C.; Reilich, Peter; Neuhann, Teresa; Zenker, Martin; Holinski-Feder, Elke; Schoser, Benedikt und Abicht, Angela
(2022):
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
In: Brain, Bd. 146, Nr. 4: S. 1388-1402
Hallermayr, Ariane; Benet-Pages, Anna; Steinke-Lange, Verena; Mansmann, Ulrich; Rentsch, Markus; Holinski-Feder, Elke und Pickl, Julia M. A.
(2021):
Liquid Biopsy Hotspot Variant Assays: Analytical Validation for Application in Residual Disease Detection and Treatment Monitoring.
In: Clinical Chemistry, Bd. 67, Nr. 11: S. 1483-1491
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
Morak, Monika; Steinke-Lange, Verena; Massdorf, Trisari; Benet-Pages, Anna; Locher, Melanie; Laner, Andreas; Kayser, Katrin; Aretz, Stefan und Holinski-Feder, Elke
(2020):
Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics.
In: Familial Cancer, Bd. 19, Nr. 2: S. 161-167
Arnold, Anke Marie; Morak, Monika; Benet-Pages, Anna; Laner, Andreas; Frishman, Dimitrij und Holinski-Feder, Elke
(2020):
Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.
In: European Journal of Human Genetics, Bd. 28, Nr. 5: S. 597-608
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
Morak, Monika; Käsbauer, Sarah; Kerscher, Martina; Massdorf, Trisari; Holinski-Feder, Elke; Laner, Andreas; Nissen, Anke M.; Benet-Pages, Anna; Schackert, Hans K. und Keller, Gisela
(2017):
Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.
In: Familial Cancer, Bd. 16, Nr. 4: S. 491-500
Vogl, Ina; Eck, Sebastian H.; Benet-Pages, Anna; Greif, Philipp A.; Hirv, Kaimo; Kotschote, Stefan; Kuhn, Marius; Gehring, Andrea; Bergmann, Carsten; Bolz, Hanno Joern; Stuhrmann, Manfred; Biskup, Saskia; Metzeler, Klaus H. und Klein, Hanns-Georg
(2012):
Diagnostic applications of next generation sequencing: working towards quality standards.
In: Laboratoriumsmedizin - Journal of Laboratory Medicine, Bd. 36, Nr. 4: S. 227-239
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