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1.
Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.
Mol Vis
; 26: 345-354, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32368002
2.
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Mol Genet Genomic Med
; 8(1)2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31736247
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