Show
Sort by
-
- Journal Article
- A1
- open access
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
-
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
-
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
-
- Journal Article
- A1
- open access
Clinical expression of Menkes disease in females with normal karyotype
-
Clinical utility gene card for: Axenfeld-Rieger syndrome
-
Haploinsufficiency of TAB2 causes congenital heart defects in humans