Detalhe da pesquisa
1.
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Genet Med
; 23(3): 581-585, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087887
2.
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Hum Mutat
; 39(11): 1641-1649, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311378
3.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Hum Mutat
; 39(11): 1650-1659, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30095202
4.
Response to Biesecker et al.
Genet Med
; 23(4): 793-794, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420347
5.
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
Am J Ophthalmol Case Rep
; 4: 50-53, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29503925
6.
Molecular pathways altered by insulin b9-23 immunization.
Ann N Y Acad Sci
; 1037: 175-85, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15699514
7.
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.
Mol Autism
; 5(1): 16, 2014 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24564913
8.
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
J Child Neurol
; 28(6): 795-800, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22805248
9.
Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.
PLoS One
; 7(12): e49475, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23227143
10.
Gene expression associated with interferon alfa antiviral activity in an HCV replicon cell line.
Hepatology
; 37(5): 1180-8, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12717400