Bibliotecas PUC-SP - Busca Integrada

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

od Amit Tiwari, Johannes Lemke, Janine Altmueller, Holger Thiele, Esther Glaus, Johannes Fleischhauer, Peter Nürnberg, John Neidhardt, Wolfgang Berger
izdano v PLoS ONE (2016-01-01)

NSUN4 is a dual function mitochondrial protein required for both methylation of 12S rRNA and coordination of mitoribosomal assembly.

od Metodi Dimitrov Metodiev, Henrik Spåhr, Paola Loguercio Polosa, Caroline Meharg, Christian Becker, Janine Altmueller, Bianca Habermann, Nils-Göran Larsson, Benedetta Ruzzenente
izdano v PLoS Genetics (2014-02-01)

Label-Free Protein-RNA Interactome Analysis Identifies Khsrp Signaling Downstream of the p38/Mk2 Kinase Complex as a Critical Modulator of Cell Cycle Progression.

od Jorge Boucas, Christian Fritz, Anna Schmitt, Arina Riabinska, Lisa Thelen, Martin Peifer, Uschi Leeser, Peter Nuernberg, Janine Altmueller, Matthias Gaestel, Christoph Dieterich, H Christian Reinhardt
izdano v PLoS ONE (2015-01-01)

NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling [version 2; peer review: 2 approved]

od Felix Wiegand, Bianca Stöcker, Famke Bäuerle, Susanne Motameny, Andreas Buness, Alexander J. Probst, Fabian Brand, Axel Schmidt, Tyll Stöcker, Sugirthan Sivalingam, Andreas Petzold, Marc Sturm, Janine Altmueller, Johannes Köster, Kerstin Becker, Leon Brandhoff, Anna Ossowski, Christian Mertes, Avirup Guha Neogi, Gisela Gabernet, Nicholas H. Smith, Friederike Hanssen
izdano v F1000Research (2024-09-01)

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly

od Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C. Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M. Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V. Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R. Bezzina, Brian P. Brooks, Abdelaziz Sefiani
izdano v Nature Communications (2019-03-01)

Post-COVID syndrome in non-hospitalised patients with COVID-19: a longitudinal prospective cohort study

od Max Augustin, MD, Philipp Schommers, M.D. PhD., Melanie Stecher, Ph.D., Felix Dewald, M.D., Lutz Gieselmann, M.D., Henning Gruell, M.D., Carola Horn, M.D., Kanika Vanshylla, Ph.D., Veronica Di Cristanziano, M.D., Luise Osebold, Maria Roventa, Toqeer Riaz, Nikolai Tschernoster, M.Sc, Janine Altmueller, M.D., Leonard Rose, M.D., Susanne Salomon, Ph.D., Vanessa Priesner, M.D., Jan Christoffer Luers, Prof., Christian Albus, Prof., Stephan Rosenkranz, Prof., Birgit Gathof, Prof., Gerd Fätkenheuer, Prof., Michael Hallek, Prof., Florian Klein, Prof., Isabelle Suárez, M.D., Clara Lehmann, Prof.
izdano v The Lancet Regional Health. Europe (2021-07-01)

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

od Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D. M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A. J. Tijssen, Arn M. J. M. van den Maagdenberg, Christel Depienne
izdano v Nature Communications (2019-10-01)