Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. Read more about Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Read more about Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. Read more about Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.