Search Results - "Claes, Godelieve Rf"

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy by Paulussen, Aimee D C, Steyls, Anja, Vanoevelen, Jo, van Tienen, Florence Hj, Krapels, Ingrid P C, Claes, Godelieve Rf, Chocron, Sonja, Velter, Crool, Tan-Sindhunata, Gita M, Lundin, Catarina, Valenzuela, Irene, Nagy, Balint, Bache, Iben, Maroun, Lisa Leth, Avela, Kristiina, Brunner, Han G, Smeets, Hubert J M, Bakkers, Jeroen, van den Wijngaard, Arthur

“…Variants in the ZIC3 gene are rare, but have demonstrated their profound clinical significance in X-linked heterotaxy, affecting in particular male patients…”
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Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers by Claes, Godelieve R F, van Tienen, Florence H J, Lindsey, Patrick, Krapels, Ingrid P C, Helderman-van den Enden, Apollonia T J M, Hoos, Marije B, Barrois, Yvette E G, Janssen, Johanna W H, Paulussen, Aimée D C, Sels, Jan-Willem E M, Kuijpers, Simone H H, van Tintelen, J Peter, van den Berg, Maarten P, Heesen, Wilfred F, Garcia-Pavia, Pablo, Perrot, Andreas, Christiaans, Imke, Salemink, Simone, Marcelis, Carlo L M, Smeets, Hubert J M, Brunner, Han G, Volders, Paul G A, van den Wijngaard, Arthur

“…Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in…”
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