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- 2007
-
Mark
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
(
- Contribution to journal › Article
- 2002
-
Mark
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.
(
- Contribution to journal › Article
-
Mark
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.
(
- Contribution to journal › Article
- 2001
-
Mark
A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility
(
- Contribution to journal › Article
- 2000
-
Mark
Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor
(
- Contribution to journal › Article
-
Mark
Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene
(
- Contribution to journal › Article
- 1999
-
Mark
A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase
(
- Contribution to journal › Article
- 1998
-
Mark
Novel Missense Mutation (P131R) in the HMG Box of SRY in XY Sex Reversal
(
- Contribution to journal › Debate/Note/Editorial
-
Mark
Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome
(
- Contribution to journal › Article
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