prof. dr. Bart Dermaut
- ORCID iD
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0000-0002-6968-0572
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Myopathic aggregation-prone variants in the TDP-43 prion-like domain: genetics paving the way.
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Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
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Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder
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Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder
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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
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Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)
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Pathogenicity of mutation in MT-ND1 (m. 3796A>G) in a family with 'Leber Hereditary Optic Neuropathy Plus Phenotype'
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From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection
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Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy
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- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing