Lv4
560 积分 2025-05-27 加入
RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype
2天前
已完结
Genotype‐cardiac phenotype correlations in a large single‐center cohort of patients affected by RASopathies: Clinical implications and literature review
9天前
已完结
Clinical Implementation of RHDNIPT in a Tertiary Obstetric Centre in Western Australia
16天前
已完结
High-throughput non-invasive prenatal testing for fetal rhesus D status in RhD-negative women not known to be sensitised to the RhD antigen: a systematic review and economic evaluation
16天前
已完结
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
1个月前
已完结
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex
1个月前
已完结
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
1个月前
已关闭
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex
1个月前
已完结
Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1
3个月前
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
3个月前
已完结
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