Results 221 to 230 of about 2,206,162 (231)

New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations

Cerebellum, 2023
Niccolò Butti, V. Oldrati, E. Ferrari, R. Romaniello, C. Gagliardi, R. Borgatti, C. Urgesi   +6 more
semanticscholar   +1 more source

Meckel and Joubert Syndromes

2010
Both Meckel (Gruber) syndrome (MKS; MIM 249000) and Joubert syndrome and related disorders (JSRD; MIM 213300) are rare, autosomal recessive genetic disorders that share congenital malformations of the posterior fossa or the hindbrain and are associated with defects in the structure and/or the function of the primary cilium.
Laura S. Finn, Ian A. Glass, Melissa A. Parisi   +2 more
openaire   +2 more sources

Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.

Advances in Experimental Medicine and Biology, 2023
R. Sangermano, E. Galdikaitė-Brazienė, K. Bujakowska   +2 more
semanticscholar   +1 more source

CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome

Molecular Biology Reports, 2022
R. Badv, Mojdeh Mahdiannasser, Maryam Rasoulinezhad, L. Habibi, A. Rashidi-Nezhad   +4 more
semanticscholar   +1 more source

Joubert syndrome

2023
openaire   +1 more source

Image of the Month: Joubert Syndrome

Pediatric Neurosurgery, 1999
Thomas G. Keens, Mark A. Mittler, McComb Jg   +2 more
openaire   +3 more sources

Joubert syndrome and Joubert syndrome-related disorders

2013
Victoria Harrison, Andrea H. Németh
openaire   +1 more source

Chorioretinal coloboma and Joubert syndrome

The Journal of Pediatrics, 1985
P.G. Barth, D. Lindhout
openaire   +3 more sources

Joubert Syndrome

2016
openaire   +1 more source

Case 25: Joubert Syndrome

Radiology, 2000
E. J. R. Van Beek, Charles B. L. M. Majoie   +1 more
openaire   +3 more sources