Results 131 to 140 of about 5,402 (155)

Joubert syndrome diagnosed renally late

CKJ: Clinical Kidney Journal, 2021
Michalis Georgiou, Abhijit Dixit, Michel Michaelides   +2 more
exaly  

Joubert syndrome and Joubert syndrome-related disorders

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

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders

Pediatric Neurology, 2020
Shaik Mohammad Naushad
exaly  

Joubert Syndrome

2009
R.J. Ferland, C.A. Walsh
openaire   +2 more sources

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Proceedings of the National Academy of Sciences of the United States of America, 2020
Simon ROCK, Sophie Saunier, Elisa Molinari   +2 more
exaly  

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Brain Communications, 2021
Ian Wilson, Lorraine Cowley, MIGUEL Barroso-Gil   +2 more
exaly  

[Joubert syndrome (Joubert-Boltshauser syndrome)].

Ryoikibetsu shokogun shirizu, 1999
Y, Saito, M, Tsuyusaki
openaire   +1 more source

Review of Ocular Manifestations of Joubert Syndrome

Genes, 2018
Yang Sun, Ke Ning, Albert Wu
exaly  

Joubert syndrome

Paediatric Nursing, 2003
openaire   +1 more source

Variability of Outcome in Joubert Syndrome

Neuropediatrics, 1985
J S H Vles, P Casaer, J S Vles
exaly