Detalhe da pesquisa
1.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Am J Hum Genet;
97(4): 535-45, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26387595
2.
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
PLoS Genet;
11(3): e1005097, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25807530
3.
Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.
Eur J Med Genet;
59(10): 507-11, 2016 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27633571
4.
Non lethal Raine syndrome and differential diagnosis.
Eur J Med Genet;
59(11): 577-583, 2016 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27667191
5.
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.
Mol Syndromol;
5(5): 218-28, 2014 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25337069