Neurologia
Síndrome de Joubert y “signo del molar” en el conjunto malformativo cerebelo-óculo-renal en dos pacientes
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 | MedLink Neurology
El Síndrome de Joubert - Genotipia
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome - ScienceDirect
Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation: The American Journal of Human Genetics
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum - ScienceDirect
Neurologia
Síndrome de Joubert y “signo del molar” en el conjunto malformativo cerebelo-óculo-renal en dos pacientes
Actualizaciones sobre Sindrome de Joubert
Joubert syndrome - wikidoc
Magnetic resonance imaging findings in a patient with Joubert syndrome.... | Download Scientific Diagram
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
Nefronoptisis
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome | Journal of Human Genetics
A-F): Joubert syndrome in a 2½-year-old girl with delayed development... | Download Scientific Diagram
Neurologia
Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders | American Journal of Neuroradiology
Joubert syndrome | MedLink Neurology
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause | Journal of Medical Genetics
MAQUETA BASE DE LA TRIPA DE LA REVISTA “ECONOMÍA Y DESARROLLO”
Síndrome de Joubert
Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso
