Lv11
30 积分 2024-02-28 加入
NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients
1小时前
待确认
The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein
5天前
已完结
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications
6天前
已完结
RMRP mutations in cartilage‐hair hypoplasia
7天前
已完结
Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia
7天前
已完结
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families
13天前
已完结
Novel and Private <b><i>EDA</i></b> Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia
13天前
已完结
A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma
18天前
已完结
Mutational analysis of ABCC2 gene in two siblings with neonatal‐onset Dubin Johnson syndrome
26天前
已完结
Prevalence of tetrahydrobiopterine (BH4)‐responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients
27天前
已完结
DFT study of interaction of O, O2, and OH with unreconstructed Pt(hkl) (h, k, l = 0, 1) surfaces—similarities, differences, and universalities
An inordinate fondness for beetles
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