Detalhe da pesquisa
1.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Mol Genet Metab
; 113(3): 161-70, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24863970
2.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Genet Med
; 14(1): 51-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237431
3.
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