A-F): Joubert syndrome in a 2½-year-old girl with delayed development... | Download Scientific Diagram
Joubert syndrome | MedLink Neurology
New insights into CC2D2A-related Joubert syndrome | Journal of Medical Genetics
Joubert syndrome - wikidoc
Joubert syndrome - wikidoc
Actualizaciones sobre Sindrome de Joubert
Síndrome de Joubert - Wikipedia, la enciclopedia libre
El Síndrome de Joubert - Genotipia
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
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. - Abstract - Europe PMC
syndrome de Joubert - Centre de référence des malformations et maladies congénitales du cervelet
Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso
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 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation: The American Journal of Human Genetics
Neurologia
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome | Journal of Human Genetics
MAQUETA BASE DE LA TRIPA DE LA REVISTA “ECONOMÍA Y DESARROLLO”
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
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome | Journal of Human Genetics
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
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
