Detalles de la búsqueda
1.
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
J Med Genet
; 51(4): 275-82, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24556084
2.
Quantitative and qualitative 2D electrophoretic analysis of differentially expressed mitochondrial proteins from five mouse organs.
Proteomics
; 13(1): 179-95, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23152153
3.
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.
PLoS Genet
; 6(3): e1000874, 2010 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-20300641
4.
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
J Mol Med (Berl)
; 87(1): 31-41, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18802676
5.
Sox9 is essential for outer root sheath differentiation and the formation of the hair stem cell compartment.
Curr Biol
; 15(15): 1340-51, 2005 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-16085486
6.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Nat Commun
; 5: 4287, 2014 Jul 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24989451
7.
Functional analysis of Sox8 and Sox9 during sex determination in the mouse.
Development
; 131(9): 1891-901, 2004 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-15056615
Resultados
1 -
7
de 7
1
Próxima >
>>