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144 积分 2024-11-25 加入
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The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
2天前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020
8天前
已完结
Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant
9天前
已完结
Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis
30天前
已关闭
Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants
30天前
已完结
Alglucosidase alfa demonstrates effectiveness and safety in Chinese patients with late-onset Pompe disease: A multi-center prospective study
1个月前
已完结
567PNovel GAA variants and genotype-phenotype correlation in late-onset Pompe disease: experience from high-risk screening study in China
1个月前
已完结
Diagnostic and clinical utility of genetic testing in children with kidney failure
1个月前
已完结
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy
1个月前
已完结
Phenotype first: a data-driven approach to genetic penetrance
1个月前
已关闭
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