Results 221 to 230 of about 2,477,262 (230)

Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases

Brain and Development, 2018
Yuji Iwasaki, Keishi Narita, Kiyoshi Matsui   +2 more
exaly  

Anaesthetic management of children with Joubert syndrome

Paediatric Anaesthesia, 1997
Walid Habre, Craig Sims
exaly  

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

American Journal of Human Genetics, 1999
Kathrin Saar, Lihadh Al-Gazali, László Sztriha   +2 more
exaly  

The Joubert Syndrome associated with bilateral chorioretinal coloboma

European Journal of Pediatrics, 1980
Dick Lindhout
exaly  

Genotypes and phenotypes of Joubert syndrome and related disorders

European Journal of Medical Genetics, 2008
Enza Maria Valente, Francesco Brancati, Bruno Dallapiccola   +2 more
exaly  

Joubert syndrome and related disorders

Neurologia I Neurochirurgia Polska, 2012
Justyna Paprocka, Ewa Jamroz
exaly  

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Proceedings of the National Academy of Sciences of the United States of America, 2018
Simon A Ramsbottom, Elisa Molinari, Kathryn White   +2 more
exaly  

Anaesthesia in an infant with Joubert's syndrome

Anaesthesia, 1989
exaly  

[Joubert syndrome].

Ryoikibetsu shokogun shirizu, 2001
openaire   +1 more source

Joubert Syndrome

2016
openaire   +1 more source