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140 积分 2024-04-24 加入
Genotype–phenotype correlation and treatment effects in young patients withGNAO1-associated disorders
1天前
待确认
Variable clinical consequences of mosaicism for c.1167dupC in IKBKG in males and females with incontinentia pigmenti and related phenotypes
9天前
已关闭
46,XY disorders of sex development: the use of NGS for prevalent variants
11天前
已完结
ISOLATED MACULOPATHY AND MODERATE ROD–CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM
24天前
已完结
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications
1个月前
已完结
Novel mutations of the HOXD13 gene in hand and foot malformations
1个月前
已关闭
WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer
1个月前
已完结
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
1个月前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
1个月前
已完结
Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family
1个月前
已关闭
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