Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
|
29159987 |
2018 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
|
29159987 |
2018 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.
|
28588821 |
2017 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.
|
28588821 |
2017 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
|
28371282 |
2017 |
Dysmorphic features
|
0.110 |
Biomarker
|
disease |
BEFREE |
MED13L haploinsufficiency syndrome is a clinical condition manifesting intellectual disability and developmental delay in association with various complications including congenital heart defects and dysmorphic features.
|
28371282 |
2017 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
|
28371282 |
2017 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
UniProt: the universal protein knowledgebase.
|
27899622 |
2017 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
|
28645799 |
2017 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
UniProt: the universal protein knowledgebase.
|
27899622 |
2017 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
|
28645799 |
2017 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Redefining the MED13L syndrome.
|
25758992 |
2015 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Redefining the MED13L syndrome.
|
25758992 |
2015 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Further confirmation of the MED13L haploinsufficiency syndrome.
|
24781760 |
2015 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
|
25712080 |
2015 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
|
25712080 |
2015 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Further confirmation of the MED13L haploinsufficiency syndrome.
|
24781760 |
2015 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
|
25137640 |
2014 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
|
25137640 |
2014 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |