Found: 5
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Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene.
- Published in:
- European Journal of Endocrinology, 2019, v. 181, n. 3, p. 233, doi. 10.1530/EJE-19-0299
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- Publication type:
- Article
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature.
- Published in:
- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 330, doi. 10.1159/000452219
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- Publication type:
- Article
Menstrual cycle pattern during the first gynaecological years in girls with precocious puberty following gonadotropin-releasing hormone analogue treatment.
- Published in:
- 2007
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- Publication type:
- journal article
Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: Genotype-phenotype correlation and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 753, doi. 10.1002/ajmg.a.36326
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- Publication type:
- Article
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
- Published in:
- Clinical Endocrinology, 2019, v. 90, n. 3, p. 449, doi. 10.1111/cen.13914
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- Publication type:
- Article