Lv1
30 积分 2023-02-16 加入
Newborn Screening for 6 Lysosomal Storage Disorders in China
1个月前
已完结
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
1个月前
已完结
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1
8个月前
已完结
Establishment and characterization of a recurrent malignant peripheral nerve sheath tumor cell line: RsNF
8个月前
已完结
Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders
8个月前
已完结
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
8个月前
已完结
Identification of Novel ARF Binding Proteins by Two-Hybrid Screening
8个月前
已完结
Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1
10个月前
已完结
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
11个月前
已完结
Long-read sequencing to resolve the parent of origin of a de novo pathogenicUBE3Avariant
11个月前
已完结
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