Fachrepositorium Lebenswissenschaften

109 Treffer

Seiten

Suche

Publisso-Menue

Seiten

Unusual deletion of the maternal 11p15 allele in Beckwith–Wiedemann syndrome with an impact on both imprinting domains

2021 . Eggermann, Thomas | Begemann, Matthias | Pfeiffer, Lutz

Astrocyte-specific expression of interleukin 23 leads to an aggravated phenotype and enhanced inflammatory response with B cell accumulation in the EAE model

2021 . Nitsch, Louisa | Petzinna, Simon | Zimmermann, Julian | Schneider, Linda | Krauthausen, Marius | Heneka, Michael T. | Getts, Daniel R. | Becker, Albert | Müller, Marcus

Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain

Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant

2021 . Hanker, Britta | Gillessen-Kaesbach, Gabriele | Hüning, Irina | Lüdecke, Hermann-Josef | Wieczorek, Dagmar

Leukocyte Telomere Length in Patients with Multiple Sclerosis and Its Association with Clinical Phenotypes

2021 . Hecker, Michael | Fitzner, Brit | Jäger, Kathrin | Bühring, Jan | Schwartz, Margit | Hartmann, Alexander | Walter, Michael | Zettl, Uwe Klaus

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

2021 . Venger, Kateryna | Elbracht, Miriam | Carlens, Julia | Deutz, Peter | Zeppernick, Felix | Lassay, Lisa | Kratz, Christian | Zenker, Martin | Kim, Jung | Stewart, Douglas R. | Wieland, Ilse | Schultz, Kris Ann P. | Schwerk, Nicolaus | Kurth, Ingo | Kontny, Udo

Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia

2021 . Shalash, Ali | Rösler, Thomas W. | Salama, Mohamed | Pendziwiat, Manuela | Müller, Stefanie H. | Hopfner, Franziska | Höglinger, Günter | Kuhlenbaeumer, Gregor

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

2021 . Mengel, David | Traschütz, Andreas | Reich, Selina | Leyva-Gutiérrez, Alejandra | Bender, Friedemann | Hauser, Stefan | Haack, Tobias B. | Synofzik, Matthis

Frequency and phenotype of thalamic aphasia

2021 . Rangus, Ida | Fritsch, Merve | Endres, Matthias | Udke, Birgit | Nolte, Christian H

DGK and DZHK position paper on genome editing: basic science applications and future perspective

2021 . Brandes, Ralf | Dueck, Anne | Engelhardt, Stefan | Kaulich, Manuel | Kupatt, Christian | De Angelis, Maria Teresa | Leisegang, Matthias S. | le Noble, Ferdinand | Moretti, Alessandra | Müller, Oliver J. | Skryabin, Boris V. | Thum, Thomas | Wurst, Wolfgang

Seiten