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

Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2

基尔奎斯特综合征:一种由SLC12A2基因纯合缺失引起的新型综合征性听力损失疾病

Macnamara, Ellen F; Koehler, Alanna E; D'Souza, Precilla; Estwick, Tyra; Lee, Paul; Vezina, Gilbert; Fauni, Harper; Braddock, Stephen R; Torti, Erin; Holt, James Matthew; Sharma, Prashant; Malicdan, May Christine V; Tifft, Cynthia J

B-cell activating factor (BAFF) is elevated in chronic granulomatous disease.

慢性肉芽肿病中 B 细胞活化因子 (BAFF) 水平升高

Matharu Kabir, Zarember Kol A, Marciano Beatriz E, Kuhns Douglas B, Spalding Christine, Garofalo Mary, Dimaggio Thomas, Estwick Tyra, Huang Chiung-Yu, Fink Danielle, Priel Debra L, Fleisher Thomas A, Holland Steven M, Malech Harry L, Gallin John I

Skin ulcers and disseminated abscesses are characteristic of Serratia marcescens infection in older patients with chronic granulomatous disease

皮肤溃疡和播散性脓肿是老年慢性肉芽肿病患者感染粘质沙雷氏菌的特征性表现。

Friend, Julia C; Hilligoss, Dianne M; Marquesen, Martha; Ulrick, Jean; Estwick, Tyra; Turner, Maria L; Cowen, Edward W; Anderson, Victoria; Holland, Steven M; Malech, Harry L