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

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

RNA 甲基转移酶 SPOUT1/CENP-32 将有丝分裂纺锤体组织与神经发育障碍 SpADMiSS 联系在一起

期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-025-56876-w
Avinash V Dharmadhikari #, Maria Alba Abad #, Sheraz Khan #, Reza Maroofian, Tristan T Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A Wear, Kiara E Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K Lee, Christine H Umandap, Sara M Berger, Alejandro D Iglesias, Bernt Popp, Ram
神经
发表日期：2025
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Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

胎儿和新生儿颅骨狭窄的临床和分子诊断：产前超声、临床、放射学和病理学特征

期刊:Genes
影响因子:2.8
doi:10.3390/genes13020261
Rosato, Simonetta; Unger, Sheila; Campos-Xavier, Belinda; Caraffi, Stefano Giuseppe; Beltrami, Laura; Pollazzon, Marzia; Ivanovski, Ivan; Castori, Marco; Bonasoni, Maria Paola; Comitini, Giuseppina; Nikkels, Peter G J; Lindstrom, Kristin; Umandap, Christine; Superti-Furga, Andrea; Garavelli, Livia
发表日期：2022
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Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders

对重症监护病房（PICU）新发代谢或神经系统疾病患者进行快速外显子组测序

期刊:Pediatric Research
影响因子:3.1
doi:10.1038/s41390-020-0858-x
Carey, Abigail S; Schacht, John P; Umandap, Christine; Fasel, David; Weng, Chunhua; Cappell, Joshua; Chung, Wendy K; Kernie, Steven G
代谢
发表日期：2020
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