Lv1
58 积分 2022-03-11 加入
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
1天前
待确认
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
8天前
已完结
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease
8天前
已完结
Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder
11天前
已完结
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum
12天前
已完结
Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development
12天前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing
15天前
已完结
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource
1个月前
已关闭
Understanding the new BRD4 ‐related syndrome: Clinical and genomic delineation with an international cohort study
2个月前
已完结
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
3个月前
已完结
皖公网安备34019202002308
