Neurologia
Joubert syndrome - wikidoc
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome | Journal of Human Genetics
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish - ScienceDirect
Síndrome de Joubert y “signo del molar” en el conjunto malformativo cerebelo-óculo-renal en dos pacientes
Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso
Síndrome de Joubert
Joubert syndrome | MedLink Neurology
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum - ScienceDirect
Joubert syndrome - wikidoc
El Síndrome de Joubert - Genotipia
Neurologia
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
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause | Journal of Medical Genetics
Joubert syndrome | MedLink Neurology
MAQUETA BASE DE LA TRIPA DE LA REVISTA “ECONOMÍA Y DESARROLLO”
Síndrome de Joubert y “signo del molar” en el conjunto malformativo cerebelo-óculo-renal en dos pacientes
Actualizaciones sobre Sindrome de Joubert
Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso
Síndrome de Joubert - Wikipedia, la enciclopedia libre
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation: The American Journal of Human Genetics
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. - Abstract - Europe PMC
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome | Journal of Medical Genetics
Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders | American Journal of Neuroradiology
Signo del molar: imagen característica en el síndrome de Joubert | Neurología
Frontiers | The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1
