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1.
Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients.
Medicina (B Aires)
; 76(4): 213-8, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27576279
2.
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
Horm Res Paediatr
; 78(2): 119-26, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22907560
3.
Two novel heterozygous missense variations within the GLI2 gene in two unrelated argentine patients / Two novel heterozygous missense variations within the GLI2 gene in two unrelated Argentine patients
Medicina (B.Aires)
; 76(4): 213-218, Aug. 2016. graf, tab
Artículo
en Inglés
| LILACS | ID: biblio-841579
4.
Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.
Horm Res Paediatr
; 75(1): 70-7, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-20861607
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