Showing 1 - 9 results of 9 for search 'Richard J.L.F. Lemmers', query time: 0.07s
Refine Results
-
1
-
2
De novo whole-genome assembly of a wild type yeast isolate using nanopore sequencing [version 2; referees: 1 approved, 3 approved with reservations] by Michael Liem, Hans J. Jansen, Ron P. Dirks, Christiaan V. Henkel, G. Paul H. van Heusden, Richard J.L.F. Lemmers, Trifa Omer, Shuai Shao, Peter J. Punt, Herman P. Spaink
Published 2018-08-01
Article -
3
Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. by Lauren Snider, Linda N Geng, Richard J L F Lemmers, Michael Kyba, Carol B Ware, Angelique M Nelson, Rabi Tawil, Galina N Filippova, Silvère M van der Maarel, Stephen J Tapscott, Daniel G Miller
Published 2010-10-01
Article -
4
SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes by Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott, Silvère M. van der Maarel
Published 2017-06-01
Article -
5
Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients by Erik van der Wal, Bianca den Hamer, Patrick J. van der Vliet, Merve Tok, Tom Brands, Bert Eussen, Richard J.L.F. Lemmers, Christian Freund, Annelies de Klein, Ronald A.M. Buijsen, Willeke M.C. van Roon-Mom, Rabi Tawil, Silvère M. van der Maarel, Jessica C. de Greef
Published 2019-10-01
Article -
6
Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges by Stephanie Efthymiou, Richard J. L. F. Lemmers, Venugopalan Y. Vishnu, Natalia Dominik, Benedetta Perrone, Stefano Facchini, Elisa Vegezzi, Sabrina Ravaglia, Lindsay Wilson, Patrick J. van der Vliet, Rinkle Mishra, Alisha Reyaz, Tanveer Ahmad, Rohit Bhatia, James M. Polke, Mv Padma Srivastava, Andrea Cortese, Henry Houlden, Silvère M. van der Maarel, Michael G. Hanna, Enrico Bugiardini
Published 2023-10-01
Article -
7
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy by Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang
Published 2022-08-01
Article -
8
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation by Danique Beijer, Hong Joo Kim, Lin Guo, Kevin O’Donovan, Inès Mademan, Tine Deconinck, Kristof Van Schil, Charlotte M. Fare, Lauren E. Drake, Alice F. Ford, Andrzej Kochański, Dagmara Kabzińska, Nicolas Dubuisson, Peter Van den Bergh, Nicol C. Voermans, Richard J.L.F. Lemmers, Silvère M. van der Maarel, Devon Bonner, Jacinda B. Sampson, Matthew T. Wheeler, Anahit Mehrabyan, Steven Palmer, Peter De Jonghe, James Shorter, J. Paul Taylor, Jonathan Baets
Published 2021-07-01
Article -
9
Correction: Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome by Peter E. Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yoshihara, Mikita Suyama, Yu Sun, Richard J. L. F. Lemmers, Jessica C. de Greef, Andrew Gennery, Paolo Picco, Barbara Kloeckener-Gruissem, Tayfun Güngör, Ismail Reisli, Capucine Picard, Kamila Kebaili, Bertrand Roquelaure, Tsuyako Iwai, Ikuko Kondo, Takeo Kubota, Monique M. van Ostaijen-Ten Dam, Maarten J. D. van Tol, Corry Weemaes, Claire Francastel, Silvère M. van der Maarel, Hiroyuki Sasaki
Published 2016-06-01
Article