Lv13
55 积分 2022-01-25 加入
Clinical phenotypes and molecular findings in ten Chinese patients with Kleefstra Syndrome Type 1 due to EHMT1 defects
2天前
已完结
Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review
2天前
已完结
Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome
2天前
已完结
Integrated analysis of COL2A1 variant data and classification of type II collagenopathies
2天前
已完结
Genotypes and Phenotypes of Children with SHOX Deficiency in France
4天前
已完结
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies
9天前
已完结
Fetal Skeletal Dysplasia
9天前
已完结
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
10天前
已完结
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing
10天前
已完结
ESMO Recommendations on clinical reporting of genomic test results for solid cancers
29天前
已完结
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