The impact of parenting a child with serious mental illness: Accounting for the parent’s genetic vulnerability to mental illness
CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults
Longitudinal white matter and cognitive development in pediatric carriers of the apolipoprotein ε4 allele
Apparently benign craniocervical signs in achondroplasia: “neurologic leftovers” identified through a retrospective dataset