Detalles de la búsqueda
1.
Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.
Eur J Hum Genet
; 15(10): 1090-3, 2007 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17625510
2.
Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.
Clin Neurol Neurosurg
; 109(10): 844-8, 2007 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-17850955
3.
Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis.
Thromb Haemost
; 94(3): 661-4, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16268486
4.
Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.
Hum Mutat
; 20(6): 452-9, 2002 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-12442269
5.
Analysis of the C9orf72 gene in spinal muscular atrophy patients.
Amyotroph Lateral Scler Frontotemporal Degener
; 15(7-8): 563-8, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24998634
6.
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.
Eur J Hum Genet
; 19(10): 1059-65, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21610752
7.
Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.
Genet Test Mol Biomarkers
; 15(9): 587-94, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21548796
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