Lv1
30 积分 2024-08-17 加入
Targeted anti-interleukin-17 therapy for linear porokeratosis
6天前
已完结
Repurposing guselkumab to target itch in disseminated superficial actinic porokeratosis: insights from RNA sequencing
7天前
已完结
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
12天前
已完结
Distal phalangeal creases – A distinctive dysmorphic feature in disorders of the RAS signalling pathway?
13天前
已完结
Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
18天前
已完结
The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias
25天前
已完结
Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of thomsen’s and becker’s myotonias in russian population
25天前
已完结
Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita
25天前
已完结
Novel Compound Heterozygous Mutations in ILNEB Syndrome
1个月前
已完结
Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype
1个月前
已完结
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