Lv52
1140 积分 2023-08-09 加入
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
1天前
已完结
Genetic architecture of motor neuron diseases
1个月前
已完结
Genetic architecture of motor neuron diseases
1个月前
已完结
Novel missense variants in COX15 cause oocyte degeneration and female infertility
1个月前
已完结
Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration
1个月前
已完结
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024
2个月前
已关闭
Analysis of phenotypes and genotypes in 84 patients with 21-Hydroxylase deficiency in southern China
2个月前
已完结
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency
2个月前
已完结
Genotypic and phenotypic spectra of NBEA-related neurodevelopmental disorder with epilepsy: a case series and literature review
2个月前
已完结
Novel compound heterozygous NDNF variants in congenital hypogonadotropic hypogonadism: insights into genotype-phenotype correlation and infertility
3个月前
已完结
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