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Autosomal dominant hypocalcemia type 1 (ADH1) associated with myoclonus and intracerebral calcifications

Journal article

Elston MS. et al, (2022), Journal of the Endocrine Society

PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.

Journal article

Sastre A. et al, (2021), The New England journal of medicine, 385, 189 - 191

Asymmetric activation of the calcium-sensing receptor homodimer.

Journal article

Gao Y. et al, (2021), Nature

Genetics of monogenic disorders of calcium and bone metabolism

Journal article

Newey PJ. et al, (2021), Clinical Endocrinology

Reference interval for albumin-adjusted calcium based on a large UK population.

Journal article

Schini M. et al, (2021), Clin Endocrinol (Oxf), 94, 34 - 39

Case report: a 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus.

Journal article

Borysewicz-Sańczyk H. et al, (2020), J Pediatr Endocrinol Metab, 33, 1231 - 1235

Genetics of skeletal disorders

Journal article

Hannan F. et al, (2020), Handbook of experimental pharmacology, 325 - 351

Activating mutations of the G-protein subunit a11 interdomain interface cause autosomal dominant hypocalcemia type 2

Journal article

Gorvin C. et al, (2019), The Journal of Clinical Endocrinology & Metabolism

Genetic approaches to metabolic bone diseases

Journal article

Hannan FM. et al, (2019), British Journal of Clinical Pharmacology, 85, 1147 - 1160

Mice With a Brd4 Mutation Represent a New Model of Nephrocalcinosis.

Journal article

Gorvin CM. et al, (2019), J Bone Miner Res

Genetic regulation of parathyroid gland development

Chapter

Hannan FM. and Thakker RV., (2019), Principles of Bone Biology, 1355 - 1377

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases

Journal article

Hannan FM. et al, (2019), Nature Reviews Endocrinology, 15, 33 - 51

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