Lv1
50 积分 2022-07-04 加入
SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness
21天前
已完结
Mosaic deletions detected by genome sequencing in two families
22天前
已关闭
Epilepsy in Coffin–Siris syndrome: A report from the international CSS registry and review of the literature
22天前
已完结
Prenatal Phenotypic Analysis of Branchio‐Oto‐Renal Spectrum Disorder Attributable to EYA1 Gene Pathogenic Variants and Systematic Literature Review
29天前
已完结
Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1
29天前
已完结
Lipid and protein imbalances in muscle of a FAR1-patient with a heterozygous de novo variant
29天前
已关闭
Fertility in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
2个月前
已完结
The uncertainty of copy number variants: pregnancy decisions and clinical follow-up
2个月前
已完结
Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes
2个月前
已完结
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort
2个月前
已完结
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