|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
|
28815871 |
2017 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
|
28944577 |
2017 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
|
28393272 |
2017 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
|
28944577 |
2017 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
|
28815871 |
2017 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability.
|
28393272 |
2017 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
|
26845106 |
2016 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
|
26845106 |
2016 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
|
25590979 |
2015 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
|
25590979 |
2015 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
|
22678713 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
|
22678713 |
2012 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
|
21800092 |
2012 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
|
21800092 |
2012 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional diversity of the hnRNPs: past, present and perspectives.
|
20795951 |
2010 |
|
Overgrowth
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
|
20382278 |
2010 |
|
Dysmorphic features
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.
|
20382278 |
2010 |