Lv2
106 积分 2024-11-22 加入
-associated Neurodegeneration: A Rare Case Report of Dystonia-Parkinsonism Phenotype with a Novel Genotypic Variant
2天前
求助中
Effect of familial clustering in the genetic screening of 235 French ALS families
2天前
待确认
Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients
3天前
已完结
A2.35 TRNT1missense mutations define a new periodic fever syndrome
4天前
已完结
Biallelic variants inDNA2cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
9天前
已完结
ALS-causing D169G mutation disrupts the ATP-binding capacity of TDP-43 RRM1 domain
11天前
已完结
Clinical Findings in a Multigeneration Family With Autosomal Dominant Central Areolar Choroidal Dystrophy Associated With an Arg195Leu Mutation in the Peripherin/RDS Gene
12天前
已完结
PRPH2-Associated Retinopathy
12天前
已关闭
Quantitative MRI in CADASIL
15天前
已关闭
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
18天前
已完结
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