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30 积分 2021-05-20 加入
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature
6小时前
待确认
Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral–Pallidoluysian Atrophy Patients
16天前
已完结
MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review
1个月前
已完结
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7
2个月前
已完结
Reanalysis of Whole Genome Sequencing Resolves Genetically Undiagnosed Patients With “ RNUopathies ”
3个月前
已完结
Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications
3个月前
已完结
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
3个月前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
4个月前
已完结
Ophthalmic findings in Alström syndrome
5个月前
已完结
Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder
5个月前
已完结
Targeting phosphatidylserine in tumor cell membranes with a zinc-containing molecule to efficiently combat tumor metastasis
Severe Cardiovascular Sequelae in Adults After Kawasaki Disease
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