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4 studies found for:    Joubert Syndrome

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Joubert Syndrome
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Rank Status Study
1 Completed Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Conditions: Joubert Syndrome;   Cerebello-oculo-renal Syndromes
Intervention: Biological: Whole blood sample
2 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
3 Recruiting UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Conditions: Hepato/Renal Fibrocystic Disease;   Autosomal Recessive Polycystic Kidney Disease;   Joubert Syndrome;   Bardet Biedl Syndrome;   Meckel-Gruber Syndrome;   Congenital Hepatic Fibrosis;   Caroli Syndrome;   Oro-Facial-Digital Syndrome Type I;   Nephronophthisis;   Glomerulocystic Kidney Disease
Intervention:
4 Recruiting Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias
Conditions: Congenital Cerebellar Ataxias;   Early-onset Cerebellar Ataxias
Intervention: Genetic: blood sample
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† Indicates status has not been verified in more than two years