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

Hypercementosis Associated with ENPP1 Mutations and GACI

与 ENPP1 突变和 GACI 相关的牙骨质增生

Thumbigere-Math, V; Alqadi, A; Chalmers, N I; Chavez, M B; Chu, E Y; Collins, M T; Ferreira, C R; FitzGerald, K; Gafni, R I; Gahl, W A; Hsu, K S; Ramnitz, M S; Somerman, M J; Ziegler, S G; Foster, B L

Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

家族性肿瘤性钙质沉着症/骨肥厚-高磷血症综合征队列的表型和基因型特征分析及治疗

Ramnitz, Mary Scott; Gourh, Pravitt; Goldbach-Mansky, Raphaela; Wodajo, Felasfa; Ichikawa, Shoji; Econs, Michael J; White, Kenneth E; Molinolo, Alfredo; Chen, Marcus Y; Heller, Theo; Del Rivero, Jaydira; Seo-Mayer, Patricia; Arabshahi, Bita; Jackson, Malaka B; Hatab, Sarah; McCarthy, Edward; Guthrie, Lori C; Brillante, Beth A; Gafni, Rachel I; Collins, Michael T

A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers

一种新的AVPR2剪接位点突变导致两兄弟患上部分性X连锁肾性尿崩症。

Schernthaner-Reiter, Marie Helene; Adams, David; Trivellin, Giampaolo; Ramnitz, Mary Scott; Raygada, Margarita; Golas, Gretchen; Faucz, Fabio R; Nilsson, Ola; Nella, Aikaterini A; Dileepan, Kavitha; Lodish, Maya; Lee, Paul; Tifft, Cynthia; Markello, Thomas; Gahl, William; Stratakis, Constantine A

Pituitary stalk lesion in a 13-year-old female

一名13岁女性的垂体柄病变

Zilbermint, Mihail; Ramnitz, Mary S; Lodish, Maya B; Kanaka-Gantenbein, Christina; Kattamis, Antonis; Lyssikatos, Charalampos; Patronas, Nicholas J; Quezado, Martha M; Stratakis, Constantine A