Lv4
488 积分 2024-05-31 加入
A novel missense mutation responsible for a patient with unique erythrokeratodermia variabilis with skin lesions in a swirling pattern
11天前
已完结
Autistic traits in youth with familial adenomatous polyposis: A Dutch-Canadian case-control study
1个月前
已完结
Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups
1个月前
已完结
TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum
1个月前
已完结
Ehlers-Danlos syndrome type VII: clinical features and molecular defects
1个月前
已关闭
Determining the genetic contribution in patients with non-syndromic ascending thoracic aortic aneurysms: Correlation with findings from computational pathology
2个月前
已完结
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
2个月前
已完结
Oxidative stress-driven transcriptomic remodeling in human astrocytes reveals network signatures associated with neurodegenerative and cardiovascular processes
2个月前
已完结
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