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Hypogonadism, female [keywords]
5016 results
- Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination. [JOURNAL ARTICLE]
- Brain Dev 2013 May 18.
- AbstractPublisher Full Text
- Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. [JOURNAL ARTICLE]
- Endocr J 2013 May 9.
- AbstractPublisher Full Text
- Revisiting hyper- and hypo-androgenism by tandem mass spectrometry. [JOURNAL ARTICLE]
- Rev Endocr Metab Disord 2013 Apr 26.
- AbstractPublisher Full Text
- Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal. [JOURNAL ARTICLE]
- J Pediatr Endocrinol Metab 2013 Apr 22.:1-5.
- AbstractPublisher Full Text
- Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. [JOURNAL ARTICLE]
- J Pediatr Endocrinol Metab 2012 Jun 7.:1-6.
- AbstractPublisher Full Text
- Atypical presentations of Wolframs syndrome. [Journal Article]
- Indian J Endocrinol Metab 2012 Dec; 16(Suppl 2):S504-5.
- Poor socio-economic status in 47,XXX - An unexpected effect of an extra X chromosome. [JOURNAL ARTICLE]
- Eur J Med Genet 2013 Mar 28.
- AbstractPublisher Full Text
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