Lv11
40 积分 2021-05-20 加入
Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
2小时前
待确认
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature
1个月前
已完结
Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral–Pallidoluysian Atrophy Patients
2个月前
已完结
MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review
3个月前
已完结
Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7
4个月前
已完结
Reanalysis of Whole Genome Sequencing Resolves Genetically Undiagnosed Patients With “ RNUopathies ”
4个月前
已完结
Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications
4个月前
已完结
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series
5个月前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
6个月前
已完结
Ophthalmic findings in Alström syndrome
6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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