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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
4小时前
待确认
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients
9天前
已关闭
Rare case of Netherton syndrome with generalized lentigines
11天前
已完结
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain
22天前
已完结
Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review
23天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
25天前
已完结
Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing
28天前
已完结
Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
1个月前
已完结
Genetic analysis of and clinical characteristics associated with ANXA11 variants in a Chinese cohort with amyotrophic lateral sclerosis
1个月前
已完结
The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature
1个月前
已完结
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