Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria
The American Journal of Human Genetics2004Vol. 75(6), pp. 979–987
Citations Over TimeTop 10% of 2004 papers
Tracy Dixon‐Salazar, Jennifer L. Silhavy, Sarah Marsh, Carrie M Louie, Lesley C. Scott, Aithala Gururaj, Lihadh Al‐Gazali, Asma Al-Tawari, Hülya Kayserili, László Sztriha, Joseph G. Gleeson
Related Papers
- Syndromes of bilateral symmetrical polymicrogyria.(1999)
- → Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556(2019)27 cited
- → Unilateral, frontal polymicrogyria and supratentorial white matter microcysts in fetus with Joubert syndrome and related disorders: Prenatal diagnosis with magnetic resonance imaging(2018)
- → Epilepsy in Joubert Syndrome: A Still Few Explored Matter(2023)
- → ИСПОЛЬЗОВAНИЕ ПОТЕНЦИAЛA СОЦИAЛЬНЫХ ПAРТНЕРОВ В ПОДГОТОВКЕ БУДУЩИХ ПЕДAГОГОВ(2024)