Prenatal diagnosis of Joubert syndrome
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference29 articles.
1. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation;Joubert;Neurology,1969
2. Joubert Syndrome and related disorders;Brancati;Orphanet J Rare Dis,2010
3. Genetic basis of Joubert syndrome and related disorders of cerebellar development;Louie;Hum Mol Genet,2005
4. Akkaya diagnosis of Joubert syndrome via ultrasonography;Buke;J Med Ultrason,2017
5. Joubert syndrome: genotyping a Northern European patient cohort;Kroes;Eur J Hum Genet,2016
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2. Síndrome de Joubert: un reto para el diagnóstico prenatal;Clínica e Investigación en Ginecología y Obstetricia;2024-10
3. Joubert syndrome: a case report of neonatal presentation and early diagnosis;Boletín Médico del Hospital Infantil de México;2023-07-17
4. Prenatal diagnosis of Joubert’s syndrome overlapping with Dandy–Walker malformation on fetal MRI;Wadia Journal of Women and Child Health;2023-05-14
5. Ciliopathies: Genetic Counseling;Journal of Pediatric Neurology;2022-12-01
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