Detalhe da pesquisa
1.
c-Jun/c-Fos heterodimers regulate cellular genes via a newly identified class of methylated DNA sequence motifs.
Nucleic Acids Res
; 42(5): 3059-72, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24371273
2.
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Am J Hum Genet
; 88(6): 788-795, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21620353
3.
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.
Am J Hum Genet
; 89(1): 168-75, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21763483
4.
Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.
Brain
; 136(Pt 4): 1155-60, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23518707
5.
Diagnostic applications of next generation sequencing in immunogenetics and molecular oncology.
Transfus Med Hemother
; 40(3): 196-206, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23922545
6.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Eur J Hum Genet
; 30(9): 1017-1021, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577938
7.
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery.
Genome Biol
; 10(8): R82, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19660108