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1.
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.
Eur J Paediatr Neurol
; 20(3): 483-8, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26805434
2.
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
J Genet
; 94(4): 755-8, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26690532
3.
A novel serine protease of the mammalian HtrA family is up-regulated in mouse uterus coinciding with placentation.
Mol Hum Reprod
; 9(5): 279-90, 2003 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-12728021
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