Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
2.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
3.
Functional characterization of the TERRA transcriptome at damaged telomeres.
Nat Commun
; 5: 5379, 2014 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-25359189
4.
HTSstation: a web application and open-access libraries for high-throughput sequencing data analysis.
PLoS One
; 9(1): e85879, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24475057