Found: 5
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Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations.
- Published in:
- Journal of Bone & Mineral Research, 2020, v. 35, n. 5, p. 913, doi. 10.1002/jbmr.3948
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- Publication type:
- Article
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
- Published in:
- Journal of Bone & Mineral Research, 2017, v. 32, n. 9, p. 1893, doi. 10.1002/jbmr.3181
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- Publication type:
- Article
Overlapping Phenotypes Associated With CYP24A1 , SLC34A1 , and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
- Published in:
- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.736240
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- Publication type:
- Article
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.
- Published in:
- 2013
- By:
- Publication type:
- journal article
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib.
- Published in:
- 2012
- By:
- Publication type:
- journal article