Lv2
106 积分 2024-12-25 加入
Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm
2天前
已完结
Mosaic RASopathy Caused by a Somatic HRAS p.Gly12Ser Variant in a Patient With Malignant Melanoma
2天前
已完结
Incontinentia pigmenti
19天前
已完结
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes
21天前
已完结
Genome-wide association meta-analysis of childhood ADHD symptoms and diagnosis identifies new loci and potential effector genes
21天前
已完结
Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report
21天前
已完结
Phenotypic Manifestations in Female Carriers of RPGR ORF15 Variants Causing X-Linked Cone Dystrophy
1个月前
已完结
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
1个月前
已完结
Loss-of-function variants in EPHX3 cause nonsyndromic epidermal differentiation disorders
2个月前
已完结
中国儿童弱视防治专家共识
2个月前
已完结
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