Detalhe da pesquisa
1.
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
PLoS Genet
; 13(2): e1006481, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158191
2.
Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.
PLoS Genet
; 13(2): e1006624, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28241013
3.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Hum Mutat
; 34(10): 1357-60, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23857908
4.
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Orphanet J Rare Dis
; 10: 27, 2015 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25888122
5.
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Neuromuscul Disord
; 23(6): 483-8, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23453856