Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings
Louw, Jacoba J, Nunes Bastos, Ricardo, Chen, Xiaowen, Verdood, Céline, Corveleyn, Anniek, Jia, Yaojuan, Breckpot, Jeroen, Gewillig, Marc, Peeters, Hilde, Santoro, Massimo M, Barr, Francis, Devriendt, Koenraad
Published in PLoS genetics (22.01.2018)
Published in PLoS genetics (22.01.2018)
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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
Jia, Yaojuan, Louw, Jacoba J., Breckpot, Jeroen, Callewaert, Bert, Barrea, Catherine, Sznajer, Yves, Gewillig, Marc, Souche, Erika, Dehaspe, Luc, Vermeesch, Joris Robert, Lambrechts, Diether, Devriendt, Koenraad, Corveleyn, Anniek
Published in American journal of medical genetics. Part A (01.08.2015)
Published in American journal of medical genetics. Part A (01.08.2015)
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Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings
Louw, Jacoba J, Corveleyn, Anniek, Jia, Yaojuan, Iqbal, Sajid, Boshoff, Derize, Gewillig, Marc, Peeters, Hilde, Moerman, Philippe, Devriendt, Koenraad
Published in European journal of medical genetics (01.09.2014)
Published in European journal of medical genetics (01.09.2014)
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Discrimination of single nucleotide mutation by using a new class of immobilized shared-stem double-stranded DNA probes
Bai, Yunfei, Lin, Dai, Han, Qin, Jia, Yaojuan, Tu, Jing, Luo, Junfeng, Ge, Qinyu, Zhang, Dingdong, Lu, Zuhong
Published in Journal of biomedical nanotechnology (01.10.2011)
Published in Journal of biomedical nanotechnology (01.10.2011)
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