Detalhe da pesquisa
1.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29097605
2.
Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.
Biochem J
; 423(1): 31-9, 2009 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-19580544
3.
Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening.
BMJ Case Rep
; 20142014 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24495977
4.
MEN2 screening dilemmas in a family with a novel RET mutation in the MEN2 susceptibility region of the gene, a family history of Hirschsprung disease, and no family history of MEN2-related tumours.
Clin Endocrinol (Oxf)
; 68(4): 666-7, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17877758
5.
Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.
Exp Neurol
; 246: 14-25, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22285450