Results 191 to 200 of about 19,788 (203)

Clinical and molecular features of Joubert syndrome and related disorders

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2009
Melissa A Parisi
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
Keishi Narita, Kiyoshi Matsui, Sen Takeda   +2 more
exaly  

Review of Ocular Manifestations of Joubert Syndrome

Genes, 2018
Tia J Kowal, Ke Ning, Euna Koo
exaly  

Joubert Syndrome

2012
openaire   +1 more source

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
Lihadh Al-Gazali, André Reis, Riad Bayoumi   +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
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

Variability of Outcome in Joubert Syndrome

Neuropediatrics, 1985
exaly