selected publications
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A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred.
The Journal of clinical endocrinology and metabolism.
1999
Academic Article
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Times cited: 31 -
A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters.
1998
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Times cited: 84 -
Natural potent androgens: lessons from human genetic models.
Bailliere's clinical endocrinology and metabolism.
1998
Review
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Times cited: 40 -
The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.
The Journal of clinical endocrinology and metabolism.
1998
Academic Article
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Times cited: 73 -
Paternity by intrauterine insemination with sperm from a man with 5alpha-reductase-2 deficiency.
1997
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Times cited: 98 -
5 alpha-reductase-2 gene mutations in the Dominican Republic.
1996
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Times cited: 62 -
The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.
1995
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Times cited: 49