Search Results - "Bax, Jördis"

A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC Patients by Klein, Janin, Allister, Aldrige B., Schmidt, Gunnar, Otto, Annette, Heinecke, Kai, Bax-Knoche, Jördis, Beger, Carmela, Becker, Sarah, Bartels, Stephan, Ripperger, Tim, Bohne, Jens, Dörk, Thilo, Schlegelberger, Brigitte, Hofmann, Winfried, Steinemann, Doris

“…The vast majority of patients at risk of hereditary breast and/or ovarian cancer (HBOC) syndrome remain without a molecular diagnosis after routine genetic…”
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Wastewater-borne microalga Chlamydomonas sp.: A robust chassis for efficient biomass and biomethane production applying low-N cultivation strategy by Klassen, Viktor, Blifernez-Klassen, Olga, Bax, Jördis, Kruse, Olaf

“…•Dominant-growing microalga Chlamydomonas isolated from digester effluent (wastewater).•Isolate Ck is extremely tolerant towards high temperatures, light and…”
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A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy by Brodehl, Andreas, Weiss, Jürgen, Debus, Jana Davina, Stanasiuk, Caroline, Klauke, Bärbel, Deutsch, Marcus André, Fox, Henrik, Bax, Jördis, Ebbinghaus, Hans, Gärtner, Anna, Tiesmeier, Jens, Laser, Thorsten, Peterschröder, Andreas, Gerull, Brenda, Gummert, Jan, Paluszkiewicz, Lech, Milting, Hendrik

“…We aimed to unravel the genetic, molecular and cellular pathomechanisms of DSC2 truncation variants leading to arrhythmogenic cardiomyopathy (ACM). We report a…”
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