about
Joubert Syndrome and related disordersAutosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeClinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.Joubert syndrome presenting with motor delay and oculomotor apraxia.Ataxia, hyperpnoea and mental retardation: was it the molar tooth?Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome.Infantile-onset saccade initiation delay (congenital ocular motor apraxia)."Staircase" saccadic intrusions plus transient yoking and neural integrator failure associated with cerebellar hypoplasia: a model simulation.Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome.Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.
P2860
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P2860
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh
1999年學術文章
@zh-hant
name
Ocular and oculomotor signs in Joubert syndrome.
@en
Ocular and oculomotor signs in Joubert syndrome.
@nl
type
label
Ocular and oculomotor signs in Joubert syndrome.
@en
Ocular and oculomotor signs in Joubert syndrome.
@nl
prefLabel
Ocular and oculomotor signs in Joubert syndrome.
@en
Ocular and oculomotor signs in Joubert syndrome.
@nl
P2860
P1476
Ocular and oculomotor signs in Joubert syndrome.
@en
P2093
P2860
P304
P356
10.1177/088307389901401001
P577
1999-10-01T00:00:00Z