Show
Sort by
-
FOXP1-related intellectual disability syndrome : a recognizable entity
-
Common variants at five new loci associated with early-onset inflammatory bowel disease
-
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
-
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
-
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.