Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders | American Journal of Neuroradiology
Síndrome de Joubert - Wikipedia, la enciclopedia libre
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. - Abstract - Europe PMC
Síndrome de Joubert y “signo del molar” en el conjunto malformativo cerebelo-óculo-renal en dos pacientes
Joubert syndrome - wikidoc
Neurologia
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome - ScienceDirect
Síndrome de Joubert y “signo del molar” en el conjunto malformativo cerebelo-óculo-renal en dos pacientes
A-F): Joubert syndrome in a 2½-year-old girl with delayed development... | Download Scientific Diagram
Neurologia
Síndrome de Joubert
Actualizaciones sobre Sindrome de Joubert
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center - Summers - 2017 - American Journal of Medical Genetics Part A - Wiley Online Library
Síndrome de Joubert y “signo del molar” en el conjunto malformativo cerebelo-óculo-renal en dos pacientes
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes | Journal of Medical Genetics
Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome | BMC Medical Genetics | Full Text
Joubert syndrome | MedLink Neurology
El Síndrome de Joubert - Genotipia
Signo del molar: imagen característica en el síndrome de Joubert | Neurología
Joubert syndrome | MedLink Neurology
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome | Journal of Human Genetics
A novel 1.38-kb deletion combined with a single nucleotide variant in KIAA0586 as a cause of Joubert syndrome | BMC Medical Genomics | Full Text