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Clinical impact of RNA-sequencing in diagnostics
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- Miscellaneous
- open access
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 underlies a neurodevelopmental disorder
(2024) -
Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.460-460 -
Methylation signatures in clinically variable syndromic disorders : a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome
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- Journal Article
- A1
- open access
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
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- Journal Article
- A1
- open access
Expanding the phenotype of B3GALNT2-related disorders
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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
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Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab