JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
|
29321670 |
2018 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
|
29321670 |
2018 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
|
28431631 |
2017 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.
|
28431631 |
2017 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
|
28125082 |
2017 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
|
28289185 |
2017 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis of 30 families with Joubert syndrome.
|
27434533 |
2016 |
JOUBERT SYNDROME 17
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Joubert syndrome: genotyping a Northern European patient cohort.
|
25920555 |
2016 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: genotyping a Northern European patient cohort.
|
25920555 |
2016 |
JOUBERT SYNDROME 17
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Joubert syndrome: genotyping a Northern European patient cohort.
|
25920555 |
2016 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetic analysis of 30 families with Joubert syndrome.
|
27434533 |
2016 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
|
25407461 |
2015 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
JOUBERT SYNDROME 17
|
0.800 |
Biomarker
|
disease |
MGD |
Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
|
25877302 |
2015 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
C5orf42 is the major gene responsible for OFD syndrome type VI.
|
24178751 |
2014 |
JOUBERT SYNDROME 17
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
C5orf42 is the major gene responsible for OFD syndrome type VI.
|
24178751 |
2014 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
C5orf42 is the major gene responsible for OFD syndrome type VI.
|
24178751 |
2014 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
|
24091540 |
2013 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
|
24091540 |
2013 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
|
23012439 |
2012 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |
JOUBERT SYNDROME 17
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |
JOUBERT SYNDROME 17
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
22425360 |
2012 |