Lv5
1250 积分 2022-10-04 加入
Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases
20天前
已关闭
Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot inATL1Blurs Autosomal Dominant Inheritance of Spastic Paraplegia
20天前
已完结
Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia
22天前
已完结
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing
22天前
已完结
A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration
1个月前
已完结
Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX females
1个月前
已完结
Measuring X inactivation skew for X-linked diseases with adaptive nanopore sequencing
1个月前
已完结
[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]
1个月前
已关闭
The GGC repeat expansion inNOTCH2NLCis associated with oculopharyngodistal myopathy type 3
2个月前
已完结
Noncarrier embryo selection and transfer in preimplantation genetic testing cycles for reciprocal translocation by Oxford Nanopore Technologies
2个月前
已完结
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