Lv1
20 积分 2023-01-10 加入
Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency
5天前
已完结
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
7天前
已完结
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature
7天前
已完结
Genomic and clinical characteristics of microduplications in chromosome 17
19天前
已完结
MFAP5 variant-induced multiple giant thoracic aortic aneurysm
22天前
已完结
Multifocal Intracranial Stenosis and Thunderclap Headache in a Patient with Heterozygous MFAP5 Mutation for Familial Thoracic Aortic Aneurysm and Dissection
22天前
已完结
Recurrent germline mutations as genetic markers for aortic root dilatation in bicuspid aortic valve patients
23天前
已完结
HeterozygousHTRA1mutations are associated with autosomal dominant cerebral small vessel disease
23天前
已完结
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population
1个月前
已完结
COX10Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood
1个月前
已完结
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