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Joubert Syndrome and related disordersClinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Joubert syndrome: report of 11 casesExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsDevelopmental abnormalities of the optic nerve and chiasm.Joubert syndrome: Clinical and radiological characteristics of nine patientsMKS1 regulates ciliary INPP5E levels in Joubert syndrome.A neonate with Joubert syndrome presenting with symptoms of Horner syndrome.Eye movement abnormalities in Joubert syndrome.Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.Joubert syndrome presenting with motor delay and oculomotor apraxia.Ocular findings in two siblings with Joubert syndrome.Disruption of the Photoreceptor Inner Segment-Outer Segment Junction in a 6-Year-Old Girl with Joubert SyndromePhysiotherapy and Rehabilitation in a Child with Joubert Syndrome.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Joubert syndrome: long-term follow-up.
@en
Joubert syndrome: long-term follow-up.
@nl
type
label
Joubert syndrome: long-term follow-up.
@en
Joubert syndrome: long-term follow-up.
@nl
prefLabel
Joubert syndrome: long-term follow-up.
@en
Joubert syndrome: long-term follow-up.
@nl
P2093
P1476
Joubert syndrome: long-term follow-up.
@en
P2093
Anthony Kriss
Christine Timms
Christopher M Harris
David S Taylor
Fatima S Shawkat
Isabelle Russell-Eggitt
Kling Chong
Peter R Hodgkins
P304
P356
10.1017/S0012162204001161
P577
2004-10-01T00:00:00Z