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

Complex genomic rearrangements of the Y chromosome in a premature infant

早产儿Y染色体的复杂基因组重排

Balow, Stephanie A; Coyan, Alyxis G; Smith, Nicki; Russell, Bianca E; Monteil, Danielle; Hopkin, Robert J; Smolarek, Teresa A

A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report

一种影响FAT1原钙黏蛋白胞质尾部的新型变异导致眼裂缺损和肾功能衰竭:病例报告

Vieta-Ferrer, Emile R; Ullah, Ehsan; Blain, Delphine; Christensen, Julie A; Brewer, Carmen C; Balow, James E; George, Aman; Hufnagel, Robert B; Cogliati, Tiziana; Brooks, Brian P

Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center

神经发育障碍患者的基因检测:辛辛那提儿童医院医疗中心511例患者的经验

Du, Xiaoli; Glass, Jennifer Elaine; Balow, Stephanie; Dyer, Lisa M; Rathbun, Pamela A; Guan, Qiaoning; Liu, Jie; Wu, Yaning; Dawson, D Brian; Walters-Sen, Lauren; Smolarek, Teresa A; Zhang, Wenying

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

对一名患有神经发育障碍的患者进行罕见嵌合型不平衡易位t(3;12)的特征分析

Hu, Xiaolin; Baker, Elizabeth K; Johnson, Jodie; Balow, Stephanie; Pena, Loren D M; Conlin, Laura K; Guan, Qiaoning; Smolarek, Teresa A

Parathyroid Hormone Resistance and Autoantibodies to the PTH1 Receptor

甲状旁腺激素抵抗和PTH1受体自身抗体

Mandl, Adel; Burbelo, Peter D; Di Pasquale, Giovanni; Tay, You Sher; Welch, James; Lionakis, Michail S; Rosenzweig, Sergio D; Waldman, Meryl A; Warner, Blake M; Walitt, Brian; Collins, Michael T; Balow, James E; Chiorini, John A; Simonds, William F; Agarwal, Sunita K; Blau, Jenny E; Weinstein, Lee S

Similar Yet Different-Structural and Functional Diversity among Arabidopsis thaliana LEA_4 Proteins

相似却又不同——拟南芥LEA_4蛋白的结构和功能多样性

Knox-Brown, Patrick; Rindfleisch, Tobias; Günther, Anne; Balow, Kim; Bremer, Anne; Walther, Dirk; Miettinen, Markus S; Hincha, Dirk K; Thalhammer, Anja

Safety and Tolerability of Omalizumab: A Randomized Clinical Trial of Humanized Anti-IgE Monoclonal Antibody in Systemic Lupus Erythematosus

奥马珠单抗的安全性和耐受性:一项人源化抗IgE单克隆抗体治疗系统性红斑狼疮的随机临床试验

Hasni, Sarfaraz; Gupta, Sarthak; Davis, Michael; Poncio, Elaine; Temesgen-Oyelakin, Yenealem; Joyal, Elizabeth; Fike, Alice; Manna, Zerai; Auh, Sungyoung; Shi, Yinghui; Chan, Diana; Carlucci, Philip; Biehl, Ann; Dema, Barbara; Charles, Nicolas; Balow, James E; Waldman, Meryl; Siegel, Richard M; Kaplan, Mariana J; Rivera, Juan

Effects of Metreleptin on Proteinuria in Patients With Lipodystrophy

米曲普汀对脂肪营养不良患者蛋白尿的影响

Lee, Ho Lim; Waldman, Meryl A; Auh, Sungyoung; Balow, James E; Cochran, Elaine K; Gorden, Phillip; Brown, Rebecca J

Membranous nephropathy: Pilot study of a novel regimen combining cyclosporine and Rituximab

膜性肾病:环孢素联合利妥昔单抗新疗法的初步研究

Waldman, Meryl; Beck, Laurence H Jr; Braun, Michelle; Wilkins, Kenneth; Balow, James E; Austin, Howard A 3rd

Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts

对患有冷吡啉相关周期性综合征的患者进行基于微阵列的基因表达谱分析,确定了疾病相关特征和IL-1反应性转录本。

Balow, James E Jr; Ryan, John G; Chae, Jae Jin; Booty, Matthew G; Bulua, Ariel; Stone, Deborah; Sun, Hong-Wei; Greene, James; Barham, Beverly; Goldbach-Mansky, Raphaela; Kastner, Daniel L; Aksentijevich, Ivona