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Jump to: 2019 | 2018
Number of items: 2.

2019

Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michele, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Veronique, Courel, Maite, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Bechec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-Francois, Szelinger, Szabolcs, Dollfus, Helene, Chelly, Jamel, Muller, Jean ORCID: 0000-0002-7682-559X, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar ORCID: 0000-0003-2151-9162, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique and Piton, Amelie ORCID: 0000-0003-0408-7468 (2019). Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. Am. J. Hum. Genet., 105 (3). S. 509 - 526. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

2018

Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt ORCID: 0000-0002-3679-1081, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo ORCID: 0000-0001-9599-9854, Nuernberg, Peter, Reinhardt, Richard ORCID: 0000-0001-9376-2132, Reis, Andre ORCID: 0000-0002-6301-6363, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno and Beck, Bodo B. (2018). Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

This list was generated on Thu May 2 08:36:16 2024 CEST.