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1.
Rare sequence variants associated with the risk of non-syndromic biliary atresia.
Hepatol Res
; 53(11): 1134-1141, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37491771
2.
Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome.
Reprod Med Biol
; 22(1): e12504, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36845002
3.
SOX9 is colocalized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins.
Mol Reprod Dev
; 87(11): 1124-1125, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33022123
4.
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
Nat Genet
; 32(3): 359-69, 2002 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-12379852
5.
Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.
Sci Rep
; 10(1): 17375, 2020 10 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33060765
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