Results 141 to 150 of about 5,402 (155)

Autophagosome–lysosome fusion in neurons requires INPP 5E, a protein associated with Joubert syndrome

EMBO Journal, 2016
Tamotsu Yoshimori, Akiko Nezu, Junya Hasegawa   +2 more
exaly  

Clinical and molecular analysis in Joubert syndrome

American Journal of Medical Genetics Part A, 1997
Maximilian Muenke, P F Chance, M W Lensch   +2 more
exaly  

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
Sen Takeda, Kiyoshi Matsui, Keishi Narita   +2 more
exaly  

Normal Cognitive Functions in Joubert Syndrome

Neuropediatrics, 2009
Enza Maria Valente, Andrea Poretti, Francesco Brancati   +2 more
exaly  

Joubert syndrome and related disorders

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

Anesthetic management of an infant with Joubert syndrome for cardiac surgery

Journal of Clinical Anesthesia, 2013
Jiju John, Akhlaque N Bhat
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 ROCK, David Steel, Sophie Saunier   +2 more
exaly  

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

European Journal of Medical Genetics, 2008
Dick Lindhout, Grazia Maria Simonetta Mancini, H Kroes   +2 more
exaly  

The Joubert Syndrome associated with bilateral chorioretinal coloboma

European Journal of Pediatrics, 1980
Dick Lindhout, P G Barth
exaly  

Joubert Syndrome

2013
Richard B. Graff, Richard B. Graff, Kathy Lawton, Connie Kasari, Janet Farmer, Judith H. Miles, Nicole Takahashi   +6 more
openaire   +1 more source