Lv2
196 积分 2021-09-26 加入
Mutation Screening of ATXN1, ATXN2, and ATXN3 in Amyotrophic Lateral Sclerosis
3天前
已完结
Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family
3天前
已完结
Genotypic and phenotypic characterisation of RP2‐ and RPGR‐associated X‐linked inherited retinal dystrophy, including female manifestations
4天前
已完结
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
6天前
已关闭
Prevalence and phenotypic features of diabetes due to recessive, non-syndromic WFS1 mutations
7天前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
11天前
已完结
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX
15天前
已完结
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
15天前
已完结
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype
15天前
已关闭
TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large‐Sample Study
18天前
已完结
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