日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study

IKBKG(NEMO)突变阳性女性中不存在骨质硬化表型:一项病例对照研究

Morten Frost, Michaela Tencerova, Christina M Andreasen, Thomas L Andersen, Charlotte Ejersted, Dea Svaneby, Weimin Qui, Moustapha Kassem, Allahdad Zarei, William H McAlister, Deborah J Veis, Michael P Whyte, Anja L Frederiksen3

Enzyme replacement prevents enamel defects in hypophosphatasia mice

酶替代可预防低磷酸酯酶症小鼠的牙釉质缺陷

Manisha C Yadav, Rodrigo Cardoso de Oliveira, Brian L Foster, Hanson Fong, Esther Cory, Sonoko Narisawa, Robert L Sah, Martha Somerman, Michael P Whyte, José Luis Millán

Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression

粘多糖贮积症 I 和 VII 型犬主动脉弹性蛋白酶活性上调可能是由于细胞因子表达增加所致

Jason A Metcalf, Bruce Linders, Susan Wu, Paul Bigg, Patricia O'Donnell, Meg M Sleeper, Michael P Whyte, Mark Haskins, Katherine P Ponder

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

涉及 2p25.3 和 Xq27.1 染色体(靠近 SOX3)的间质缺失-插入导致 X 连锁隐性甲状旁腺功能减退症

Michael R Bowl, M Andrew Nesbit, Brian Harding, Elaine Levy, Andrew Jefferson, Emanuela Volpi, Karine Rizzoti, Robin Lovell-Badge, David Schlessinger, Michael P Whyte, Rajesh V Thakker