Lv1
38 积分 2024-02-21 加入
Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3
8天前
已完结
Subretinal Gene Therapy for X-Linked Retinoschisis
14天前
已完结
Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC
16天前
已完结
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
17天前
已完结
Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females
17天前
已完结
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord
22天前
已完结
Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome
23天前
已完结
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease
23天前
已完结
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
23天前
已完结
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
24天前
已完结
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