Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex Ligati...

著者: Jennes, Ivy, Entius, Mark M., Van Hul, Els, Parra, Alessandro, Sangiorgi, Luca, Wuyts, Wim
出版事項 2008

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

著者: Oliver, Gavin R., Blackburn, Patrick R., Ellingson, Marissa S., Conboy, Erin, Pinto e Vairo, Filippo, Webley, Matthew, Thorland, Erik, Ferber, Matthew, Van Hul, Els, van der Werf, Ilse M., Wuyts, Wim, Babovic‐Vuksanovic, Dusica, Klee, Eric W.
出版年 Mol Genet Genomic Med (2019)

Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

著者: Van Wesenbeeck, Liesbeth, Odgren, Paul R., Coxon, Fraser P., Frattini, Annalisa, Moens, Pierre, Perdu, Bram, MacKay, Carole A., Van Hul, Els, Timmermans, Jean-Pierre, Vanhoenacker, Filip, Jacobs, Ruben, Peruzzi, Barbara, Teti, Anna, Helfrich, Miep H., Rogers, Michael J., Villa, Anna, Van Hul, Wim
出版事項 2007