Showing 1 - 11 results of 11 for search 'Peter Bauer', query time: 0.02s
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P671: Enhancing genetic diagnostics: The critical role of enzyme activity assays and RNA-sequencing as primary multi-omics screening tools by Mandy Radefeldt, Erick Alberto Rivera Comparan, Christian Beetz, Tobias Boettcher, Sabrina Lemke, Catarina Pereira, Sebastian Oppermann, Claudia Mrosowski, Susan Zielske, Peter Bauer
Published 2025-01-01Get full text
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Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls by Michal Becker-Cohen, Ari Zimran, Tama Dinur, Maayan Tiomkin, Arndt Rolfs, David Arkadir, Peter Bauer, Elena Shulman, Gilad Yahalom, Mikhal E. Cohen, Orly Manor, Ora Paltiel, Shoshana Revel-Vilk
Published 2025-06-01Get full text
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P740: Impact of gene-disease relationship curation on patient diagnostics and panel design by Eleni Perraki, Mariana Ferreira, Emir Zonic, Boodor Al-Kawlani, Deepa Saravanakumar, Ismet Duranovic, Javier Martini, Maria Eugenia Rocha, Ruxandra Aanicai, Alejandra Reyes, Catarina Pereira, Omid Paknia, Peter Bauer, Aida Bertoli-Avella, Jorge Pinto-Basto
Published 2025-01-01Get full text
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UAS hydrometry: contactless river water level, bathymetry, and flow velocity – the Rӧnne river dataset by Zhen Zhou, Laura Riis-Klinkvort, Emilie Ahrnkiel Jørgensen, Daniel Haugård Olesen, Alexander Rietz Vesterhauge, Monica Coppo Frías, Makar Lavish, Sune Nielsen, David Gustafsson, Daniel Wennerberg, Jenny Axén, Viktor Fagerstrӧm, Peter Bauer-Gottwein
Published 2025-02-01Get full text
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Exploring environmental modifiers of LRRK2-associated Parkinson’s disease penetrance: An exposomics and metagenomics pilot study on household dust by Begoña Talavera Andújar, Sandro L. Pereira, Susheel Bhanu Busi, Tatiana Usnich, Max Borsche, Sibel Ertan, Peter Bauer, Arndt Rolfs, Soraya Hezzaz, Jenny Ghelfi, Norbert Brüggemann, Paul Antony, Paul Wilmes, Christine Klein, Anne Grünewald, Emma L. Schymanski
Published 2024-12-01Get full text
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Measuring River Surface Velocity Using UAS‐Borne Doppler Radar by Zhen Zhou, Laura Riis‐Klinkvort, Emilie Ahrnkiel Jørgensen, Christine Lindenhoff, Monica Coppo Frías, Alexander Rietz Vesterhauge, Daniel Haugård Olesen, Makar Lavish, Alexey Dobrovolskiy, Alexey Kadek, Niksa Orlic, Tomislav Grubesa, Luka Drmić, Henrik Grosen, Sune Nielsen, Daniel Wennerberg, Viktor Fagerström, Jenny Axén, David Gustafsson, Peter Bauer‐Gottwein
Published 2024-11-01Get full text
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PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson’s disease by Claire Y. Chiang, Neringa Pratuseviciute, Yu-En Lin, Ayan Adhikari, Wondwossen M. Yeshaw, Chloe Flitton, Pemba L. Sherpa, Francesca Tonelli, Irena Rektorova, Timothy Lynch, Joanna Siuda, Monika Rudzińska-Bar, Oleksandr Pulyk, Peter Bauer, Christian Beetz, Dennis W. Dickson, Owen A. Ross, Zbigniew K. Wszolek, Zih-Hua Fang, Christine Klein, Alexander Zimprich, Dario R. Alessi, Esther M. Sammler, Suzanne R. Pfeffer
Published 2025-08-01Get full text
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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS by Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao
Published 2025-02-01Get full text
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