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Actualizaciones sobre Sindrome de Joubert
Actualizaciones sobre Sindrome de Joubert

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
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

Actualizaciones sobre Sindrome de Joubert
Actualizaciones sobre Sindrome de Joubert

Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso
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
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation: The American Journal of Human Genetics

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome | Journal of Human Genetics
A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome | Journal of Human Genetics

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause | Journal of Medical Genetics
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

Magnetic resonance imaging findings in a patient with Joubert syndrome.... | Download Scientific Diagram
Magnetic resonance imaging findings in a patient with Joubert syndrome.... | Download Scientific Diagram

Neurologia
Neurologia

Joubert syndrome | MedLink Neurology
Joubert syndrome | MedLink Neurology

Joubert syndrome | MedLink Neurology
Joubert syndrome | MedLink Neurology

Joubert syndrome | MedLink Neurology
Joubert syndrome | MedLink Neurology

Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso
Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso

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

Nefronoptisis
Nefronoptisis

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes | Journal of Medical Genetics
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes | Journal of Medical Genetics

Frontiers | The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1
Frontiers | The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1

Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders | American Journal of Neuroradiology
Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders | American Journal of Neuroradiology

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
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

Joubert syndrome - wikidoc
Joubert syndrome - wikidoc

New insights into CC2D2A-related Joubert syndrome | Journal of Medical Genetics
New insights into CC2D2A-related Joubert syndrome | Journal of Medical Genetics

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish - ScienceDirect
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish - ScienceDirect

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. - Abstract - Europe PMC
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. - Abstract - Europe PMC