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174 积分 2024-11-25 加入
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Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis
16天前
已关闭
Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants
16天前
已完结
Alglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective study
17天前
已完结
567PNovel GAA variants and genotype-phenotype correlation in late-onset Pompe disease: experience from high-risk screening study in China
17天前
已完结
Diagnostic and clinical utility of genetic testing in children with kidney failure
19天前
已完结
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy
19天前
已完结
Phenotype first: a data-driven approach to genetic penetrance
24天前
已关闭
Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2
28天前
已完结
Whole exome sequencing improves genetic diagnosis of fetal clubfoot
1个月前
已完结
Prenatal Diagnosis of Bloom Syndrome Associated With Biallelic BLM RecQ‐Like Helicase Variants Presenting With Severe Fetal Growth Restriction
1个月前
已完结
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