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A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes by Michal Schweiger, André Reis, Esen Gümüslü, Alice Krebsova, Andreas Raab, Christine Lang, Denise Horn, Karl Sperling, Heidemarie Neitzel
Published 2025-07-01Get full text
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Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. by Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda, Christian Büttner, Rebecca Buchert, Farah Radwan, Stefanie Schaffer, Heinrich Sticht, Michael Aigner, André Reis, Taroh Kinoshita, Rami Abou Jamra
Published 2014-05-01Get full text
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Common genetic determinants of intraocular pressure and primary open-angle glaucoma. by Leonieke M E van Koolwijk, Wishal D Ramdas, M Kamran Ikram, Nomdo M Jansonius, Francesca Pasutto, Pirro G Hysi, Stuart Macgregor, Sarah F Janssen, Alex W Hewitt, Ananth C Viswanathan, Jacoline B ten Brink, S Mohsen Hosseini, Najaf Amin, Dominiek D G Despriet, Jacqueline J M Willemse-Assink, Rogier Kramer, Fernando Rivadeneira, Maksim Struchalin, Yurii S Aulchenko, Nicole Weisschuh, Matthias Zenkel, Christian Y Mardin, Eugen Gramer, Ulrich Welge-Lüssen, Grant W Montgomery, Francis Carbonaro, Terri L Young, DCCT/EDIC Research Group, Céline Bellenguez, Peter McGuffin, Paul J Foster, Fotis Topouzis, Paul Mitchell, Jie Jin Wang, Tien Y Wong, Monika A Czudowska, Albert Hofman, Andre G Uitterlinden, Roger C W Wolfs, Paulus T V M de Jong, Ben A Oostra, Andrew D Paterson, Wellcome Trust Case Control Consortium 2, David A Mackey, Arthur A B Bergen, André Reis, Christopher J Hammond, Johannes R Vingerling, Hans G Lemij, Caroline C W Klaver, Cornelia M van Duijn
Published 2012-01-01Get full text
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