Published in J Clin Endocrinol Metab on May 01, 2003
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Genetic investigation of four meiotic genes in women with premature ovarian failure. Eur J Endocrinol (2008) 1.13
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. J Clin Endocrinol Metab (2009) 1.12
Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors. Proc Natl Acad Sci U S A (2008) 1.10
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New evidence regarding hormone replacement therapies is urgently required transdermal postmenopausal hormone therapy differs from oral hormone therapy in risks and benefits. Maturitas (2005) 1.03
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The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. J Clin Endocrinol Metab (2014) 0.89
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Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. Hum Mutat (2011) 0.87
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A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear. Genome Res (2002) 0.83
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Characterization of two constitutively active prolactin receptor variants in a cohort of 95 women with multiple breast fibroadenomas. J Clin Endocrinol Metab (2009) 0.83
Computed tomography of the anterior skull base in Kallmann syndrome reveals specific ethmoid bone abnormalities associated with olfactory bulb defects. J Clin Endocrinol Metab (2013) 0.83