Detalhe da pesquisa
1.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
2.
Mutations in CSPP1 lead to classical Joubert syndrome.
Am J Hum Genet
; 94(1): 80-6, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360807
3.
SnowyOwl: accurate prediction of fungal genes by using RNA-Seq and homology information to select among ab initio models.
BMC Bioinformatics
; 15: 229, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24980894
4.
Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis.
J Child Neurol
; 30(7): 881-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25156663
5.
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Science
; 343(6170): 506-511, 2014 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-24482476