Lv5
880 积分 2023-12-01 加入
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
16小时前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
16小时前
已完结
Epub 2022 Mar 2. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema
11天前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing
11天前
已完结
Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review
12天前
已完结
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
12天前
已完结
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
13天前
已完结
Strategic validation of variants of uncertain significance in ECHS1 genetic testing
13天前
已完结
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
14天前
已完结
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
15天前
已完结
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