General Topics in Research


Aicardi syndrome	Down syndrome	Neurodegenerative diseases
Alzheimer disease	Dystonia	Polycythemia vera
Angelman syndrome	Epilepsy	Prader-Willi syndrome
Autism	Fragile X syndrome	Rett syndrome
Bardet-Biedl syndrome	Hearing loss	Rothmund-Thomson syndrome
Bone formation	Goltz syndrome	Schizophrenia
Charcot-Marie-Tooth disease	Hypodontia	Smith-Magenis syndrome
Coffin Lowry syndrome	Incontinentia pigmenti	Spinocerebellar ataxia type 1
Congenital cytomegalovirus infections	Mitochondrial dysfunction	Traumatic brain injury
Congenital heart defects	Myotonic dystrophy	Uniparental disomy for chromosome 14
del22q11 syndrome	Neural development	Urea cycle disorders