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X Chromosome Inactivation [MeSH]
(1)
Ubiquitin-Protein Ligases/genetics [MeSH]
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Tumor Suppressor Protein p53/genetics [MeSH]
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Artikel
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2024
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2021
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2020
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Leibniz-Institut für Alternsforschung
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A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing
2024 .
Holthöfer, Laura
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Diederich, Stefan
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Haug, Verena
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Lehmann, Lioba
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Hewel, Charlotte
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Paul, Norbert W.
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Schweiger, Susann
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Gerber, Susanne
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Linke, Matthias
2024
http://purl.org/ontology/bibo/Article
Multicenter evaluation of an automated, multiplex, RNA-based molecular assay for detection of ALK, ROS1, RET fusions and MET exon 14 skipping in NSCLC
2024 .
Melchior, Linea
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Hirschmann, Astrid
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Hofman, Paul
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Bontoux, Christophe
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Concha, Angel
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Mrabet-Dahbi, Salima
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Vannuffel, Pascal
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Watkin, Emmanuel
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Putzová, Martina
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Scarpino, Stefania
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Cayre, Anne
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Martin, Paloma
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Stoehr, Robert
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Hartmann, Arndt
2024
http://purl.org/ontology/bibo/Article
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti
2024 .
Eigemann, Jessica
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Janda, Ales
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Schuetz, Catharina
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Lee-Kirsch, Min Ae
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Schulz, Ansgar
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Hoenig, Manfred
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Furlan, Ingrid
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Jacobsen, Eva-Maria
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Zinngrebe, Julia
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Peters, Sarah
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Drewes, Cosima
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Siebert, Reiner
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Rump, Eva-Maria
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Führer, Marita
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Lorenz, Myriam
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Pannicke, Ulrich
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Kölsch, Uwe
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Debatin, Klaus-Michael
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von Bernuth, Horst
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Schwarz, Klaus
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Felgentreff, Kerstin
2024
http://purl.org/ontology/bibo/Article
Porcine model elucidates function of p53 isoform in carcinogenesis and reveals novel circTP53 RNA
2021 .
Niu, Guanglin
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Hellmuth, Isabel
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Flisikowska, Tatiana
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Pausch, Hubert
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Rieblinger, Beate
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Carrapeiro, Alexander
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Schade, Benjamin
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Böhm, Brigitte
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Kappe, Eva
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Fischer, Konrad
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Klinger, Bernhard
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Steiger, Katja
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Burgkart, Reiner
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Bourdon, jean-christophe
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Saur, Dieter
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Kind, Alexander
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Schnieke, Angelika
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Flisikowski, Krzysztof
2021
http://purl.org/ontology/bibo/Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
2020 .
Ufartes, Roser
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Berger, Hanna
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Till, Katharina
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Salinas, Gabriela
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Sturm, Marc
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Altmüller, Janine
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Nürnberg, Peter
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Thiele, Holger
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Funke, Rudolf
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Apeshiotis, Neophytos
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Langen, Hendrik
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Wollnik, Bernd
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Borchers, Annette
|
, Silke
2020
http://purl.org/ontology/bibo/Article
Neuronal activity regulates alternative exon usage
2020 .
Denkena, Johanna
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Zaisser, Andrea
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Merz, Barbara
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Klinger, Bertram
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Kuhl, Dietmar
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Blüthgen, Nils
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Hermey, Guido
2020
http://purl.org/ontology/bibo/Article
Analysis of the coding sequences of clownfish reveals molecular convergence in the evolution of lifespan
2019 .
Sahm, Arne
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Almaida-Pagán, Pedro
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Bens, Martin
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Mutalipassi, Mirko
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Lucas-Sánchez, Alejandro
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de Costa Ruiz, Jorge
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Görlach, Matthias
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Cellerino, Alessandro
2019
http://purl.org/ontology/bibo/Article
