Lv1
10 积分 2025-01-14 加入
In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis
15小时前
待确认
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy
7天前
已完结
A novel homozygous variant in ZFP36L2 cause female infertility due to oocyte maturation defect
26天前
已完结
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
26天前
已完结
Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests
1个月前
已完结
Prevalence and founder effect of DRC1 exon 1–4 deletion in Korean patients with primary ciliary dyskinesia
1个月前
已完结
Whole-exome sequencing reveals genetic risks of early-onset sporadic dilated cardiomyopathy in the Chinese Han population
1个月前
已完结
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations
2个月前
已完结
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
2个月前
已完结
Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery
2个月前
已完结
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