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Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis
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"Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation
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Joubert's syndrome with retinal dysplasia: Neonatal tachypnoea as the clue to a genetic brain-eye malformation
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Joubert syndrome: A clinico-radiological study
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The joubert syndrome associated with bilateral chorioretinal coloboma
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Lindhout D, Barth PG, Valk J, Boen-Tan TN. The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr 1980; 134:173-176.
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Joubert syndrome associated with leber amaurosis and multicystic kidneys
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Ivarsson SA, Bjerre I, Brun A, Ljungberg O, Maly E, Taylor I. Joubert syndrome associated with Leber amaurosis and multicystic kidneys. Am J Med Genet 1993; 45:542-547.
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Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B
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Hildebrandt F, Nothwang HG, Vossmerbaumer U, et al. Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. Pediatr Nephrol 1998; 12:16-19.
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Vermian agenesis without posterior fossa cyst
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Adamsbaum C, Moreau V, Bulteau C, Burstyn J, Lair Milan F, Kalifa G. Vermian agenesis without posterior fossa cyst. Pediatr Radiol 1994; 24:543-546.
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Cerebellar vermian defects: Antenatal sonographic appearance and clinical significance
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Anaesthetic management of children with Joubert syndrome
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Habre W, Sims C, D'Souze M. Anaesthetic management of children with Joubert syndrome. Paediatric Anaesth 1997; 7:251-253.
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