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Rare genetic disorders that impair parathyroid hormone synthesis, secretion, or bioactivity provide insights into the diagnostic utility of different parathyroid hormone …
J Höppner, H Jüppner - Current Opinion in Nephrology and …, 2024 - journals.lww.com
Rare diseases affecting PTH synthesis and secretion have offered helpful insights into
parathyroid biology and the diagnostic utility of commonly used PTH assays, which may …
parathyroid biology and the diagnostic utility of commonly used PTH assays, which may …
Progress report on multiple endocrine neoplasia type 1
R Halperin, A Tirosh - Familial Cancer, 2025 - Springer
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder
caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with …
caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with …
The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene
L Steyaert, K David, J Breckpot, M Renard… - Calcified Tissue …, 2025 - Springer
Hyperparathyroidism‐jaw tumor syndrome is a rare form of syndromic primary
hyperparathyroidism. We describe a young female with a history of common precursor B …
hyperparathyroidism. We describe a young female with a history of common precursor B …