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48 积分 2025-02-08 加入
[Consensus on method selection, experimental testing, and data analysis of newborn genetic screening (2026 Edition)]
1个月前
已完结
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India
1个月前
已完结
46,XY disorders of sex development: the use of NGS for prevalent variants
1个月前
已完结
Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy
2个月前
已完结
Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease
2个月前
已完结
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
2个月前
已完结
Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants
2个月前
已完结
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features
2个月前
已完结
CELSR1 variants are associated with partial epilepsy of childhood
4个月前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
4个月前
已完结
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