Nefronoptisis
Actualizaciones sobre Sindrome de Joubert
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation: The American Journal of Human Genetics
Actualizaciones sobre Sindrome de Joubert
Frontiers | The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1
Neurologia
Joubert syndrome | MedLink Neurology
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome - ScienceDirect
New insights into CC2D2A-related Joubert syndrome | Journal of Medical Genetics
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
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes | Journal of Medical Genetics
Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso
Joubert syndrome - wikidoc
El Síndrome de Joubert - Genotipia
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause | Journal of Medical Genetics
Síndrome de Joubert y “signo del molar” en el conjunto malformativo cerebelo-óculo-renal en dos pacientes
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
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
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome | Journal of Human Genetics
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. - Abstract - Europe PMC
Joubert syndrome - wikidoc
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
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome | Journal of Human Genetics
