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1.
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Mol Genet Genomic Med
; 9(1): e1542, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33350591
2.
Living with a child at risk for psychotic illness: the experience of parents coping with 22q11 deletion syndrome: an exploratory study.
Am J Med Genet A
; 146A(18): 2355-60, 2008 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-18698620
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