Search
Mostrar filtros
Add filters:
Use filters to refine the search results.
Results 1-2 of 2 (Search time: 0.26 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2011 | MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female | BRANDAO, Maira Pontual; COSTA, Elaine Maria Frade; FUKAMI, Maki; GERDULO, Mariza; PEREIRA, Natalia P.; DOMENICE, Sorahia; OGATA, Tsutomu; MENDONCA, Berenice B. |
| 2011 | A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome | SILVA, Thatiana Evilen da; NISHI, Mirian Yumie; COSTA, Elaine Maria Frade; MARTIN, Regina Matsunaga; CARVALHO, Filomena Marino; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia |
- previous
- 1
- next