Found: 6
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DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.
- Published in:
- Molecular Genetics & Genomics, 2016, v. 291, n. 4, p. 1535, doi. 10.1007/s00438-016-1185-0
- By:
- Publication type:
- Article
A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred.
- Published in:
- Journal of Neuroendocrinology, 2018, v. 30, n. 12, p. N.PAG, doi. 10.1111/jne.12658
- By:
- Publication type:
- Article
HNF I A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study.
- Published in:
- Cardiovascular Diabetology, 2009, v. 8, p. 1, doi. 10.1186/1475-2840-8-28
- By:
- Publication type:
- Article
127L Variant of HNF-1α Gene May Change Mutual Relationship of Metabolic Syndrome Features in Autossomal Dominant Type 2 Diabetes Mellitus.
- Published in:
- Diabetes, 2007, v. 56, p. A644
- By:
- Publication type:
- Article
Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Ca<sub>v</sub> 1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis.
- Published in:
- Clinical Endocrinology, 2002, v. 56, n. 3, p. 367, doi. 10.1046/j.1365-2265.2002.01481.x
- By:
- Publication type:
- Article