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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationMutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosaNovel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Giulia Ascari
@ast
Giulia Ascari
@en
Giulia Ascari
@es
Giulia Ascari
@nl
Giulia Ascari
@sl
type
label
Giulia Ascari
@ast
Giulia Ascari
@en
Giulia Ascari
@es
Giulia Ascari
@nl
Giulia Ascari
@sl
prefLabel
Giulia Ascari
@ast
Giulia Ascari
@en
Giulia Ascari
@es
Giulia Ascari
@nl
Giulia Ascari
@sl
P106
P21
P31
P496
0000-0001-6175-6774