Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis
Author:
Publisher
Georg Thieme Verlag KG
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0028-1091505.pdf
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1. Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene;American Journal of Ophthalmology Case Reports;2024-12
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4. Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation;American Journal of Neuroradiology;2023-02-23
5. Analysis of CT and MRI Manifestations of Joubert Syndrome;Journal of the Belgian Society of Radiology;2023
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