Lv21
140 积分 2024-12-25 加入
Phenotypic Manifestations in Female Carriers of RPGR ORF15 Variants Causing X-Linked Cone Dystrophy
57分钟前
求助中
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
9天前
已完结
Loss-of-function variants in EPHX3 cause nonsyndromic epidermal differentiation disorders
19天前
已完结
中国儿童弱视防治专家共识
1个月前
已完结
Concomitant presence of a novel ARPP21 variant and CNVs in Chinese familial amyotrophic lateral sclerosis-frontotemporal dementia patients
1个月前
已完结
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1
1个月前
已完结
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1
1个月前
已完结
ACTG1基因变异致Baraitser-Winter综合征1例患儿的临床及遗传学分析
2个月前
已完结
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1
2个月前
已完结
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