about
Joubert Syndrome and related disordersDescription, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)Clinical nosologic and genetic aspects of Joubert and related syndromes.Clinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.Clinical features and revised diagnostic criteria in Joubert syndrome.Neuropsychological consequences of cerebellar tumour resection in children: cerebellar cognitive affective syndrome in a paediatric population.Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneityDelineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Joubert syndrome in a neonate: case report with literature reviewMKS1 regulates ciliary INPP5E levels in Joubert syndrome.Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging.Cerebellar mutism syndrome and its relation to cerebellar cognitive and affective function: Review of the literature.A report of Joubert syndrome in an infant, with literature review.Developmental disorders of the midbrain and hindbrain.Vertical supranuclear gaze palsy in Niemann-Pick type C disease.Long-term sequelae after acquired pediatric hemorrhagic cerebellar lesions.OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.Cognition, behavior, and development in Joubert syndrome.The child with jerking eyes and gaitJoubert syndrome: Report of a neonatal case.Ataxia, hyperpnoea and mental retardation: was it the molar tooth?Prospective Evaluation of Kidney Disease in Joubert Syndrome.Joubert syndrome: monozygotic twins with discordant phenotypes.Parental burden, coping, and family functioning in primary caregivers of children with Joubert syndrome.A case of cerebello-oculo-renal syndrome with situs inversus totalis: a new phenotype."Staircase" saccadic intrusions plus transient yoking and neural integrator failure associated with cerebellar hypoplasia: a model simulation.Diagnosis of Joubert syndrome via ultrasonography.Joubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation.Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome.Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.Mortality in Joubert syndrome.Cognitive, adaptive, and behavioral features in Joubert syndrome.Cerebellar cognitive affective syndrome: insights from Joubert syndrome.Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.
P2860
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P2860
description
1997 nî lūn-bûn
@nan
1997 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Follow-up in children with Joubert syndrome.
@ast
Follow-up in children with Joubert syndrome.
@en
Follow-up in children with Joubert syndrome.
@nl
type
label
Follow-up in children with Joubert syndrome.
@ast
Follow-up in children with Joubert syndrome.
@en
Follow-up in children with Joubert syndrome.
@nl
prefLabel
Follow-up in children with Joubert syndrome.
@ast
Follow-up in children with Joubert syndrome.
@en
Follow-up in children with Joubert syndrome.
@nl
P2093
P356
P1433
P1476
Follow-up in children with Joubert syndrome.
@en
P2093
Boltshauser E
Steinlin M
P304
P356
10.1055/S-2007-973701
P577
1997-08-01T00:00:00Z