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3q29 duplications: A cohort of 46 patients and a literature review
2天前
已完结
3q29 duplications: A cohort of 46 patients and a literature review
10天前
已完结
Methanogenic archaea in the human gastrointestinal tract
15天前
已完结
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
16天前
已完结
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
18天前
已完结
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
19天前
已完结
Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects
19天前
已完结
Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis
24天前
已完结
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
26天前
已完结
The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity
26天前
已完结
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