Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Joubert syndrome: genotyping a Northern European patient cohort.
|
25920555 |
2016 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
|
27491411 |
2016 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Joubert syndrome: genotyping a Northern European patient cohort.
|
25920555 |
2016 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
|
27491411 |
2016 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Unraveling the genetics of Joubert and Meckel-Gruber syndromes.
|
25729630 |
2014 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Unraveling the genetics of Joubert and Meckel-Gruber syndromes.
|
25729630 |
2014 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
|
23559409 |
2013 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
|
23559409 |
2013 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
|
20232449 |
2010 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
|
20232449 |
2010 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Joubert syndrome: insights into brain development, cilium biology, and complex disease.
|
19778711 |
2009 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Joubert syndrome: insights into brain development, cilium biology, and complex disease.
|
19778711 |
2009 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
Multiple congenital anomalies
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
|
10508989 |
1999 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.
|
10508989 |
1999 |