Lv31
308 积分 2022-01-12 加入
Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome
19天前
已完结
[A case of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures caused by PHF21A gene variation and review of literature]
1个月前
已完结
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
1个月前
已完结
Obesity in adults
1个月前
已完结
Dominant Missense Variants in SREBF2 are Associated with Complex Dermatological, Neurological, and Skeletal Abnormalities
1个月前
已完结
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
1个月前
已完结
Curating Genetic Associations with Rheumatologic Autoimmune Diseases to Improve Patient Outcomes
1个月前
已完结
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
1个月前
已完结
International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review
1个月前
已完结
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias
2个月前
已完结
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