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1.
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Am J Hum Genet
; 93(1): 181-90, 2013 Jul 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-23830518
2.
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
Am J Hum Genet
; 90(4): 661-74, 2012 Apr 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-22482805
3.
Neuronal-specific deficiency of the splicing factor Tra2b causes apoptosis in neurogenic areas of the developing mouse brain.
PLoS One
; 9(2): e89020, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24586484
4.
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
Am J Hum Genet
; 70(2): 358-68, 2002 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-11791208
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