Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome von AlAbdi, Lama, Neuhann, Teresa, Prott, Eva-Christina, Schön, Ulrike, Abdulwahab, Firdous, Faqeih, Eissa, Alkuraya, Fowzan S.

Volltext

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing von Diebold, Isabel, Schön, Ulrike, Horvath, Rita, Schwartz, Oliver, Holinski-Feder, Elke, Kölbel, Heike, Abicht, Angela

Volltext

Genotype‐phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome von Thimm, Andreas, Rahal, Ahmad, Schoen, Ulrike, Abicht, Angela, Klebe, Stephan, Kleinschnitz, Christoph, Hagenacker, Tim, Stettner, Mark

Volltext

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes von Diebold, Isabel, Schön, Ulrike, Scharf, Florentine, Benet‐Pagès, Anna, Laner, Andreas, Holinski‐Feder, Elke, Abicht, Angela

Volltext

Single Cell Analysis of Mutations in the APC Gene von Mayer, Veronika, Schoen, Ulrike, Holinski-Feder, Elke, Koehler, Udo, Thalhammer, Stefan

Volltext

Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P von 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

Volltext

Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling von Abicht, Angela, Schön, Ulrike, Laner, Andreas, Holinski-Feder, Elke, Diebold, Isabel

Volltext

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death von Schön, Ulrike, Holzer, Anna, Laner, Andreas, Kleinle, Stephanie, Scharf, Florentine, Benet-Pagès, Anna, Peschel, Oliver, Holinski-Feder, Elke, Diebold, Isabel

Volltext

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy von 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

Volltext

Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method von Abicht, Angela, Scharf, Florentine, Kleinle, Stephanie, Schön, Ulrike, Holinski‐Feder, Elke, Horvath, Rita, Benet‐Pagès, Anna, Diebold, Isabel

Volltext

Human Endogenous Retroviral Long Terminal Repeat Sequences as Cell Type-Specific Promoters in Retroviral Vectors von SCHÖN, Ulrike, DIEM, Olivia, LEITNER, Laura, GÜNZBURG, Walter H, MAGER, Dixie L, SALMONS, Brian, LEIB-MÖSCH, Christine

Volltext

Low volume amplification and sequencing of mitochondrial DNA on a chemically structured chip von Lutz-Bonengel, Sabine, Sänger, Timo, Heinrich, Marielle, Schön, Ulrike, Schmidt, Ulrike

Volltext

The potential of retroviral vectors to cotransfer human endogenous retroviruses (HERVs) from human packaging cell lines von Zeilfelder, Udo, Frank, Oliver, Sparacio, Sandra, Schön, Ulrike, Bosch, Valerie, Seifarth, Wolfgang, Leib-Mösch, Christine

Volltext

Die katecholaminerge polymorphe ventrikuläre Tachykardie (CPVT) von Marschall, Christoph, Schön, Ulrike, Diebold, Isabel

Volltext

Die katecholaminerge polymorphe ventrikuläre Tachykardie (CPVT): Eine tückische Erkrankung, die bei jungen Menschen zum plötzlichen Herztod führen kann von Marschall, Christoph, Schön, Ulrike, Diebold, Isabel

Volltext

RETROVIRAL EXPRESSION VECTORS ON THE BASIS OF HERV- LONG TERMINAL REPEAT SEQUENCES von SCHOEN, ULRIKE, BAUST, CORINNA, LEIB-MOESCH, CHRISTINE

Volltext bestellen

Auf HERV-LTR-Sequenzen basierende retrovirale Expressionsvektoren von SCHOEN, ULRIKE, BAUST, CORINNA, LEIB-MOESCH, CHRISTINE

Volltext bestellen

RETROVIRAL EXPRESSION VECTORS ON THE BASIS OF HERV- LONG TERMINAL REPEAT SEQUENCES von SCHOEN, ULRIKE, BAUST, CORINNA, LEIB-MOESCH, CHRISTINE

Volltext bestellen

RETROVIRAL EXPRESSION VECTORS ON THE BASIS OF HERV- LONG TERMINAL REPEAT SEQUENCES von SCHOEN, ULRIKE, BAUST, CORINNA, SALLER, ROBERT, MICHAEL, LEIB-MOESCH, CHRISTINE

Volltext bestellen

Inhibition of SARS–CoV-2 by type I and type III interferons von Felgenhauer, Ulrike, Schoen, Andreas, Gad, Hans Henrik, Hartmann, Rune, Schaubmar, Andreas R., Failing, Klaus, Drosten, Christian, Weber, Friedemann

Volltext