Lv51
1130 积分 2024-02-29 加入
Mutations in TITF-1 are associated with benign hereditary chorea
6小时前
待确认
[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations]
2个月前
已完结
Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients
3个月前
已完结
Hyperhomocysteinemia in patients with riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency
4个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
4个月前
已完结
Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations
4个月前
已完结
Antibody-Drug Conjugate Overview: a State-of-the-art Manufacturing Process and Control Strategy
5个月前
已完结
[Analysis of clinical phenotypes and genetic variations in a Chinese family affected with craniofacial and skeletal deformities]
6个月前
已完结
Novel compound heterozygous indel ZMPSTE24 mutations in a Taiwanese male infant with restrictive dermopathy
6个月前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
7个月前
已完结
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