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

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

神经病变靶酯酶活性决定了PNPLA6疾病的表型

Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A; Sergeev, Yuri V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J; Prasov, Lev; Shi, Ruifang; Dollfus, Hélène; Aristodemou, Petros; Laich, Yannik; Németh, Andrea H; Taylor, John; Downes, Susan; Krawczynski, Maciej R; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A; Moore, Anthony T; Duncan, Jacque L; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L; Siskind, Carly E; Traboulsi, Elias I; Blackstone, Craig; Sisk, Robert A; Miraldi Utz, Virginia; Webster, Andrew R; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B

Therapeutic potential of JAK inhibitors in juvenile idiopathic arthritis-associated uveitis

JAK抑制剂在幼年特发性关节炎相关性葡萄膜炎中的治疗潜力

Maccora, Ilaria; Land, Preston; Miraldi Utz, Virginia; Angeles-Han, Sheila T

Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis

碳酸酐酶抑制剂可减少X连锁视网膜劈裂症的并发症

Wey, Stephanie; Brill, Daniel A; Miraldi Utz, Virginia; Sisk, Robert A

Panuveitis and optic neuropathy following SARS-COV-2 in the absence of multisystem inflammatory syndrome in a child

儿童感染SARS-CoV-2后出现全葡萄膜炎和视神经病变,但无多系统炎症综合征。

Land, Preston; Shah, Veeral; Lovell, Daniel J; Miraldi Utz, Virginia

Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease

计划性早产和诺里氏病治疗的长期解剖和视觉结果

Sisk, Robert A; Miraldi-Utz, Virginia; Schwartz, Terry L; Hufnagel, Robert B; Ahmed, Zubair M

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

儿童TRPM1相关先天性静止性夜盲症的临床表现

Miraldi Utz, Virginia; Pfeifer, Wanda; Longmuir, Susannah Q; Olson, Richard John; Wang, Kai; Drack, Arlene V

Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation

一名6岁新发糖尿病患儿出现双侧白内障:已知INS基因突变的一种新表现

Wasserman, Halley; Hufnagel, Robert B; Miraldi Utz, Virginia; Zhang, Kejian; Valencia, C Alexander; Leslie, Nancy D; Crimmins, Nancy A