Lv1
30 积分 2022-08-24 加入
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies
3天前
已完结
Stress-activated miR-204 governs senescent phenotypes of chondrocytes to promote osteoarthritis development
10天前
已完结
Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation
17天前
已关闭
Mutational characterization of ATP7B gene in 103 Wilson’s disease patients from Southern China
18天前
已完结
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders
1个月前
已完结
Duplication 16p11.2 in a child with infantile seizure disorder
1个月前
已完结
Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome
1个月前
已完结
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism
1个月前
已完结
Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype
1个月前
已完结
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate
2个月前
已完结
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