Show
Sort by
-
- Journal Article
- A1
- open access
Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement
-
Novel mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF and result in Aicardi-Goutières syndrome with severe end-organ involvement
-
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
-
A substitution error leading to central anticholinergic syndrome
-
Redefining the MED13L syndrome
-
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
-
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
-
Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
-
Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
-
Matepair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations