- ORCID iD
-
0009-0006-8210-3944
Show
Sort by
-
- Journal Article
- A1
- open access
Generation of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A]; [806_810del] variants in the RDH12 gene
-
- Journal Article
- A1
- open access
Case report : recurrent catatonia in a patient with 17p13.3 microduplication syndrome
-
Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment
-
Non-coding structural variants disrupt a critical regulatory region steering FOXG1 transcription during early neurodevelopment
-
Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment
-
Non-coding structural variants disrupt regulatory elements steering FOXG1 transcription in early neurodevelopment
-
Structural variants disrupt a critical regulatory region downstream of FOXG1
-
Structural variants disrupt a critical regulatory region downstream of FOXG1
-
- 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