Search Results - Lim, Sze Chern

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome by Coenen-Van der Spek, Jet (Author) , den Hoed, Joery (Author) , Snijders Blok, Lot (Author) , Dingemans, Alexander J. M. (Author) , Schijven, Dick (Author) , Nellaker, Christoffer (Author) , Venselaar, Hanka (Author) , Astuti, Galuh D. N. (Author) , Barakat, Tahsin Stefan (Author) , Bebin, E. Martina (Author) , Beck-Wödl, Stefanie (Author) , Beunders, Gea (Author) , Brown, Natasha J. (Author) , Brunet, Theresa (Author) , Brunner, Han G. (Author) , Campeau, Philippe M. (Author) , Čuturilo, Goran (Author) , Gilissen, Christian (Author) , Haack, Tobias B. (Author) , Hüning, Irina (Author) , Husain, Ralf A. (Author) , Kamien, Benjamin (Author) , Lim, Sze Chern (Author) , Lovrecic, Luca (Author) , Magg, Janine (Author) , Maver, Ales (Author) , Miranda, Valancy (Author) , Monteil, Danielle C. (Author) , Ockeloen, Charlotte W. (Author) , Pais, Lynn S. (Author) , Plaiasu, Vasilica (Author) , Raiti, Laura (Author) , Richmond, Christopher (Author) , Rieß, Angelika (Author) , Schwaibold, Eva (Author) , Simon, Marleen E. H. (Author) , Spranger, Stephanie (Author) , Tan, Tiong Yang (Author) , Thompson, Michelle L. (Author) , de Vries, Bert B. A. (Author) , Wilkins, Ella J. (Author) , Willemsen, Marjolein H. (Author) , Francks, Clyde (Author) , Vissers, Lisenka E. L. M. (Author) , Fisher, Simon E. (Author) , Kleefstra, Tjitske (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings by Wilson, Matthew P. (Author) , Garanto, Alejandro (Author) , Pinto e Vairo, Filippo (Author) , Ng, Bobby G. (Author) , Ranatunga, Wasantha K. (Author) , Ventouratou, Marina (Author) , Baerenfaenger, Melissa (Author) , Huijben, Karin (Author) , Thiel, Christian (Author) , Ashikov, Angel (Author) , Keldermans, Liesbeth (Author) , Souche, Erika (Author) , Vuillaumier-Barrot, Sandrine (Author) , Dupré, Thierry (Author) , Michelakakis, Helen (Author) , Fiumara, Agata (Author) , Pitt, James (Author) , White, Susan M. (Author) , Lim, Sze Chern (Author) , Gallacher, Lyndon (Author) , Peters, Heidi (Author) , Rymen, Daisy (Author) , Witters, Peter (Author) , Ribes, Antonia (Author) , Morales-Romero, Blai (Author) , Rodríguez-Palmero, Agustí (Author) , Ballhausen, Diana (Author) , de Lonlay, Pascale (Author) , Barone, Rita (Author) , Janssen, Mirian C. H. (Author) , Jaeken, Jaak (Author) , Freeze, Hudson H. (Author) , Matthijs, Gert (Author) , Morava, Eva (Author) , Lefeber, Dirk J. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext