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H. Van Esch

Katholieke Universiteit Leuven

41

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2049

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Maternal copy number variations in the DMD gene as incidental findings in non-invasive prenatal testing

2019 European Journal of Human Genetics
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De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

2018 Molecular Psychiatry
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Altered neuronal network and rescue in a human MECP2 duplication model

2016 Molecular Psychiatry
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Quaking post-transcriptionally promotes differentiation of monocytes into pro-atherogenic macrophages by controling pre-mRNA splicing and gene expression

2016 Atherosclerosis
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Clinical implementation of NIPT – technical and biological challenges

2016 Clinical Genetics
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

2013 Journal of Medical Genetics
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Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

2012 Molecular Syndromology
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Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

2012 European Journal of Medical Genetics
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Refining the phenotype associated with MEF2C haploinsufficiency

2010 Clinical Genetics
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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

2010 Molecular Psychiatry
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