Detalhe da pesquisa
1.
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Hum Mol Genet
; 24(7): 2000-10, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504045
2.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Am J Hum Genet
; 90(1): 102-9, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22177090
3.
Next-generation genetic testing for retinitis pigmentosa.
Hum Mutat
; 33(6): 963-72, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22334370
4.
Multiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors.
J Mol Diagn
; 8(4): 433-43, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16931583
5.
Targeted next generation sequencing reveals a novel intragenic deletion of the TPO gene in a family with intellectual disability.
Arch Med Res
; 43(4): 312-6, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22387573
6.
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Nat Genet
; 44(4): 440-4, S1-2, 2012 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22366783
7.
RAS/RAF pathway activation in gliomas: the result of copy number gains rather than activating mutations.
Acta Neuropathol
; 114(2): 121-33, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17588166