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Your search keyword '"Haye, Damien"' showing total 7 results

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7 results on '"Haye, Damien"'

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1. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

2. Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

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

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