7 results on '"Haye, Damien"'
Search Results
2. Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
3. Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
4. Searching for secondary findings: considering actionability and preserving the right not to know
5. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies
6. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
7. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.