Lv1
40 积分 2022-08-24 加入
Genetics, manifestations, and management of catecholaminergic polymorphic ventricular tachycardia
1天前
已关闭
Defining the phenotypic spectrum of SLC6A1 mutations
1天前
已完结
Long-Read Sequencing Solves Complex Structure of CYP21A2 in a Large 21-Hydroxylase Deficiency Cohort
1个月前
已完结
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies
2个月前
已完结
Stress-activated miR-204 governs senescent phenotypes of chondrocytes to promote osteoarthritis development
2个月前
已完结
Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation
2个月前
已关闭
Mutational characterization of ATP7B gene in 103 Wilson’s disease patients from Southern China
2个月前
已完结
Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders
3个月前
已完结
Duplication 16p11.2 in a child with infantile seizure disorder
3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
3个月前
已完结
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