Lv11
40 积分 2023-06-28 加入
Solving a diagnostic challenge with Nanopore long-read sequencing: a novel Alu element exonic insertion with false positive MLPA finding in SLC25A13 for citrin deficiency
16天前
已完结
Whole genome sequencing as a first‐tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil
21天前
已完结
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
26天前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
29天前
已完结
[Diagnosis of a fetus with atelosteogenesis type 2 through combined prenatal ultrasonography and whole exome sequencing]
29天前
已完结
Genetic and clinical characteristics of ALS patients with NEK1 gene variants
1个月前
已完结
A novel TNFRSF13B frameshift variant in one family with lymphoid neoplasms
1个月前
已完结
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects
1个月前
已完结
Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich’s ataxia
1个月前
已完结
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
1个月前
已完结
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