Lv721
5000 积分 2024-04-14 加入
Successful repurposing of empagliflozin to treat neutropenia in a severe congenital neutropenia patient with G6PC3 mutations
3天前
求助中
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5
3天前
已完结
A20 Haploinsufficiency: A Systematic Review of 177 Cases
11天前
已完结
IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA
18天前
已完结
Whole-genome sequencing identifies novel genes for autism in Chinese trios
23天前
已完结
Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes
1个月前
已完结
Genotype–phenotype correlation for skin and neuropsychiatric features in tuberous sclerosis complex
1个月前
已完结
Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing
1个月前
已完结
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
1个月前
已完结
Identification of KANSL1 as a novel pathogenic gene for developmental dysplasia of the hip
1个月前
已完结
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