Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 4 (of 4 Records) |
| Query Trace: Neonatal Severe Hyperparathyroidism[original query] |
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| Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2005 1 113 (1): 31-4. Felderbauer P, Hoffmann P, Klein W, Bulut K, Ansorge N, Epplen J T, Schmitz F, Schmidt W |
| Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. Journal of molecular endocrinology 2009 Apr 42 (4): 331-9. Cole David E C, Yun Francisco H J, Wong Betty Y L, Shuen Andrew Y, Booth Ronald A, Scillitani Alfredo, Pidasheva Svetlana, Zhou Xiang, Canaff Lucie, Hendy Geoffrey |
| Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. European journal of endocrinology / European Federation of Endocrine Societies 2016 Nov 175 (5): 421-31. Glaudo Markus, Letz Saskia, Quinkler Marcus, Bogner Ulrich, Elbelt Ulf, Strasburger Christian J, Schnabel Dirk, Lankes Erwin, Scheel Sandra, Feldkamp Joachim, Haag Christine, Schulze Egbert, Frank-Raue Karin, Raue Friedhelm, Mayr Bernhard, Schöfl Christ |
| Rare diseases caused by abnormal calcium sensing and signalling. Endocrine 2021 2 71 (3): 611-617. T?ke Judit, Czirják Gábor, Enyedi Péter, Tóth Mikl |
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