about
Joubert Syndrome and related disordersInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeModelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal developmentOptic disk drusen in children.Clinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: report of 11 casesJoubert syndrome: Clinical and radiological characteristics of nine patientsJoubert syndrome presenting with motor delay and oculomotor apraxia.Joubert syndrome: the molar tooth sign of the mid-brain.Ocular findings in two siblings with Joubert syndrome.Visual field defects due to optic disk drusen in children.Horizontal head titubation in infants with Joubert syndrome: a new finding.Infantile-onset saccade initiation delay (congenital ocular motor apraxia).
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Ophthalmological findings in Joubert syndrome.
@en
Ophthalmological findings in Joubert syndrome.
@nl
type
label
Ophthalmological findings in Joubert syndrome.
@en
Ophthalmological findings in Joubert syndrome.
@nl
prefLabel
Ophthalmological findings in Joubert syndrome.
@en
Ophthalmological findings in Joubert syndrome.
@nl
P2093
P356
P1433
P1476
Ophthalmological findings in Joubert syndrome
@en
P2093
P2888
P304
P356
10.1038/EYE.2009.116
P577
2009-05-22T00:00:00Z