about
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardationGermline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humansGenotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndromeExome sequencing identifies PDE4D mutations as another cause of acrodysostosisMutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyMutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Alice Goldenberg
@ast
Alice Goldenberg
@en
Alice Goldenberg
@es
Alice Goldenberg
@nl
Alice Goldenberg
@sl
type
label
Alice Goldenberg
@ast
Alice Goldenberg
@en
Alice Goldenberg
@es
Alice Goldenberg
@nl
Alice Goldenberg
@sl
prefLabel
Alice Goldenberg
@ast
Alice Goldenberg
@en
Alice Goldenberg
@es
Alice Goldenberg
@nl
Alice Goldenberg
@sl