JOUBERT SYNDROME 28
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
|
26490104 |
2016 |
JOUBERT SYNDROME 28
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
|
27570071 |
2016 |
JOUBERT SYNDROME 28
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
JOUBERT SYNDROME 28
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
|
24886560 |
2014 |
JOUBERT SYNDROME 28
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
|
23351400 |
2012 |
JOUBERT SYNDROME 28
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
|
21228398 |
2011 |
JOUBERT SYNDROME 28
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
|
17377820 |
2007 |
JOUBERT SYNDROME 28
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
|
17397051 |
2007 |
JOUBERT SYNDROME 28
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
|
17437276 |
2007 |
JOUBERT SYNDROME 28
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
|
16415886 |
2006 |
JOUBERT SYNDROME 28
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
|
16415886 |
2006 |
JOUBERT SYNDROME 28
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
|
16415886 |
2006 |
JOUBERT SYNDROME 28
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
|
16415886 |
2006 |
JOUBERT SYNDROME 28
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
|
16415886 |
2006 |
JOUBERT SYNDROME 28
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The effect of superinfection by T4r+ coliphage on the deoxyribonucleeases of induced Escherichia coli Y10.
|
4886560 |
1969 |