HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death
Schön, Ulrike, Holzer, Anna, Laner, Andreas, Kleinle, Stephanie, Scharf, Florentine, Benet-Pagès, Anna, Peschel, Oliver, Holinski-Feder, Elke, Diebold, Isabel
Published in BMC medical genomics (31.03.2021)
Published in BMC medical genomics (31.03.2021)
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Journal Article
The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy
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
Published in Neuromolecular medicine (01.03.2016)
Published in Neuromolecular medicine (01.03.2016)
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Journal Article
Human Endogenous Retroviral Long Terminal Repeat Sequences as Cell Type-Specific Promoters in Retroviral Vectors
SCHÖN, Ulrike, DIEM, Olivia, LEITNER, Laura, GÜNZBURG, Walter H, MAGER, Dixie L, SALMONS, Brian, LEIB-MÖSCH, Christine
Published in Journal of Virology (01.12.2009)
Published in Journal of Virology (01.12.2009)
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Journal Article
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome
AlAbdi, Lama, Neuhann, Teresa, Prott, Eva-Christina, Schön, Ulrike, Abdulwahab, Firdous, Faqeih, Eissa, Alkuraya, Fowzan S.
Published in Human genetics (01.06.2024)
Published in Human genetics (01.06.2024)
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Journal Article
HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing
Diebold, Isabel, Schön, Ulrike, Horvath, Rita, Schwartz, Oliver, Holinski-Feder, Elke, Kölbel, Heike, Abicht, Angela
Published in Molecular and cellular probes (01.04.2019)
Published in Molecular and cellular probes (01.04.2019)
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Journal Article
Die katecholaminerge polymorphe ventrikuläre Tachykardie (CPVT)
Marschall, Christoph, Schön, Ulrike, Diebold, Isabel
Published in MMW Fortschritte der Medizin (01.08.2024)
Published in MMW Fortschritte der Medizin (01.08.2024)
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Journal Article
Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P
Reilich, Peter, Schlotter, Beate, Montagnese, Federica, Jordan, Berit, Stock, Friedrich, Schäff-Vogelsang, Mario, Hotter, Benjamin, Eger, Katherina, Diebold, Isabel, Erdmann, Hannes, Becker, Kerstin, Schön, Ulrike, Abicht, Angela
Published in Neuromuscular disorders : NMD (01.02.2021)
Published in Neuromuscular disorders : NMD (01.02.2021)
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Journal Article
Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling
Abicht, Angela, Schön, Ulrike, Laner, Andreas, Holinski-Feder, Elke, Diebold, Isabel
Published in Cardiovascular diagnosis and therapy (01.04.2021)
Published in Cardiovascular diagnosis and therapy (01.04.2021)
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Journal Article
Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method
Abicht, Angela, Scharf, Florentine, Kleinle, Stephanie, Schön, Ulrike, Holinski‐Feder, Elke, Horvath, Rita, Benet‐Pagès, Anna, Diebold, Isabel
Published in Molecular genetics & genomic medicine (01.11.2018)
Published in Molecular genetics & genomic medicine (01.11.2018)
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Journal Article
Cloning and sequencing of the dnaK operon of Bacillus stearothermophilus
Herbort, Markus, Schön, Ulrike, Angermann, Karin, Lang, Jens, Schumann, Wolfgang
Published in Gene (17.04.1996)
Published in Gene (17.04.1996)
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Journal Article
Low-volume amplification on chemically structured chips using the PowerPlex16 DNA amplification kit
Schmidt, Ulrike, Lutz-Bonengel, Sabine, Weisser, Hans-Joachim, Sänger, Timo, Pollak, Stefan, Schön, Ulrike, Zacher, Thomas, Mann, Wolfgang
Published in International journal of legal medicine (01.01.2006)
Published in International journal of legal medicine (01.01.2006)
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Journal Article
The potential of retroviral vectors to cotransfer human endogenous retroviruses (HERVs) from human packaging cell lines
Zeilfelder, Udo, Frank, Oliver, Sparacio, Sandra, Schön, Ulrike, Bosch, Valerie, Seifarth, Wolfgang, Leib-Mösch, Christine
Published in Gene (01.04.2007)
Published in Gene (01.04.2007)
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Journal Article
Functional Activity of HERV-K-T47D-Related Long Terminal Repeats
Baust, Corinna, Seifarth, Wolfgang, Schön, Ulrike, Hehlmann, Rüdiger, Leib-Mösch, Christine
Published in Virology (New York, N.Y.) (10.05.2001)
Published in Virology (New York, N.Y.) (10.05.2001)
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