Show
Sort by
-
- Journal Article
- A1
- open access
Cracking rare disorders : a new minimally invasive RNA-seq protocol
-
- Journal Article
- A1
- open access
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
-
- Journal Article
- A1
- open access
RORA-neurodevelopmental disorder : a unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
-
Diagnostic efficiency of clinical exome sequencing in fetuses with congenital anomalies
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1319-1319 -
Valuable insights after one year whole exome sequencing in a fetal/prenatal setting
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.356-356 -
Methylation signatures in clinically variable syndromic disorders : a familial DNMT3A variant in two adults with Tatton-Brown-Rahman syndrome
-
MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
-
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
-
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features
-
- Journal Article
- A1
- open access
IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?