Show
Sort by
-
- Journal Article
- A1
- open access
RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease
-
- Journal Article
- A1
- open access
Cracking rare disorders : a new minimally invasive RNA-seq protocol
-
- Journal Article
- A1
- open access
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
-
- Miscellaneous
- open access
De novo CUL3 variant in a child presenting with hypertension and kidney failure
-
Clinical impact of RNA-sequencing in diagnostics
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.648-648 -
- Miscellaneous
- open access
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
-
Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
-
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
-
- Journal Article
- A1
- open access
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder