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

Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasia

ACTH刺激后皮质醇峰值反应与非典型先天性肾上腺皮质增生症患儿的基因型相关

Dayno, Allie N; Kilberg, Marissa J; Gonter, Erin; Gallop, Robert; Squicciarini, Jacob; Montano, Carolina; Vogiatzi, Maria G

Two Cases of MYRF-Related Differences of Sex Development: A Wide Phenotypic Spectrum

两例与MYRF相关的性发育差异:广泛的表型谱

Dayno, Allie; Chatty, Prerana; Muneer, Sara; Montano, Carolina; Kilberg, Marissa; Vogiatzi, Maria

Early-phase insulin secretion during mixed-meal tolerance testing predicts β-cell function and secretory capacity in cystic fibrosis

混合餐耐量试验中早期胰岛素分泌可预测囊性纤维化患者的β细胞功能和分泌能力

Sheikh, Saba; Stefanovski, Darko; Kilberg, Marissa J; Hadjiliadis, Denis; Rubenstein, Ronald C; Rickels, Michael R; Kelly, Andrea

Transient albuminuria in the setting of short-term severe hyperglycemia in type 1 diabetes

型糖尿病患者短期严重高血糖症背景下的短暂性蛋白尿

Huang, Jia Xin; Copeland, Timothy P; Pitts, Casey E; Myers, Sage R; Kilberg, Marissa J; Ku, Elaine; Glaser, Nicole

SETD2 mutations do not contribute to clonal fitness in response to chemotherapy in childhood B cell acute lymphoblastic leukemia

SETD2 突变不会促进儿童 B 细胞急性淋巴细胞白血病化疗后的克隆适应性

Gloria P Contreras Yametti, Gabriel Robbins, Ashfiyah Chowdhury, Sonali Narang, Talia H Ostrow, Harrison Kilberg, Joshua Greenberg, Lindsay Kramer, Elizabeth Raetz, Aristotelis Tsirigos, Nikki A Evensen, William L Carroll

A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency

人类天冬酰胺合成酶 (ASNS) 活性的测量方法及其对与 ASNS 缺乏相关的 ASNS 蛋白变体的应用

Mario C Chang, Stephen J Staklinski, Matthew E Merritt, Michael S Kilberg

Ethical concerns surrounding sex prediction using noninvasive prenatal screening from pediatric endocrinologists' perspective

从儿科内分泌学家的角度探讨利用无创产前筛查进行性别预测的伦理问题

Kamoun, Camilia; Rossi, Wilma; Kilberg, Marissa J

Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification

AlphaMissense预测在天冬酰胺合成酶缺乏症变异分类中的应用

Staklinski, Stephen J; Scheben, Armin; Siepel, Adam; Kilberg, Michael S

Enhancing teacher collaboration in higher education: the potential of activity-oriented design for professional development

加强高等教育中的教师合作:以活动为导向的设计在专业发展中的潜力

Pischetola, Magda; Møller, Jeppe Kilberg; Malmborg, Lone

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines

淋巴母细胞系中天冬酰胺合成酶缺乏变异的表征

Stephen J Staklinski, Mario C Chang, Rebecca C Ahrens-Nicklas, Shagun Kaur, Arianna K Stefanatos, Elizabeth E Dudenhausen, Matthew E Merritt, Michael S Kilberg