Lv2
120 积分 2024-07-18 加入
When One Diagnosis Is Not Enough
8天前
已完结
Patterns of X-linked inheritance: a new approach for the genome era
9天前
已完结
Long-Read Sequencing: The Third Generation of Diagnostic Testing for Dystonia
9天前
已完结
The improvement in diagnostic yield of developmental and epileptic encephalopathy by the multi-omics sequential testing method
11天前
已完结
Advancing precision care in pregnancy through a treatable fetal findings list
22天前
已完结
Reporting ABCD1 Variants as Actionable Secondary Findings on Exome and Genome Sequencing
23天前
已关闭
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye
25天前
已完结
Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia
1个月前
已完结
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder
1个月前
已完结
Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia
1个月前
已完结
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