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

Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling

在一名兄弟姐妹的新生儿筛查结果呈阳性后,发现了五例漏诊的囊性纤维化杂合突变病例

Qussous, Khaleel; Abdulhamid, Ibrahim; Kleyn, Mary; Schuen, John; Nasr, Samya Z

Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis

CFTR 和囊性纤维化的基因组、转录组和蛋白质图谱

Sanders, Morgan; Lawlor, James M J; Li, Xiaopeng; Schuen, John N; Millard, Susan L; Zhang, Xi; Buck, Leah; Grysko, Bethany; Uhl, Katie L; Hinds, David; Stenger, Cynthia L; Morris, Michele; Lamb, Neil; Levy, Hara; Bupp, Caleb; Prokop, Jeremy W

Nocturnal Oximetry-based Evaluation of Habitually Snoring Children

基于夜间血氧饱和度监测的习惯性打鼾儿童评估

Hornero, Roberto; Kheirandish-Gozal, Leila; Gutiérrez-Tobal, Gonzalo C; Philby, Mona F; Alonso-Álvarez, María Luz; Álvarez, Daniel; Dayyat, Ehab A; Xu, Zhifei; Huang, Yu-Shu; Tamae Kakazu, Maximiliano; Li, Albert M; Van Eyck, Annelies; Brockmann, Pablo E; Ehsan, Zarmina; Simakajornboon, Narong; Kaditis, Athanasios G; Vaquerizo-Villar, Fernando; Crespo Sedano, Andrea; Sans Capdevila, Oscar; von Lukowicz, Magnus; Terán-Santos, Joaquín; Del Campo, Félix; Poets, Christian F; Ferreira, Rosario; Bertran, Katalina; Zhang, Yamei; Schuen, John; Verhulst, Stijn; Gozal, David