Lv41
640 积分 2022-11-01 加入
Molecular Genetic Analysis of Newborns with Congenital Microcephaly
3小时前
待确认
Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer
4天前
已完结
Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches
4天前
已完结
Systematic mRNA analysis for the effect ofMLH1 andMSH2 missense and silent mutations on aberrant splicing
5天前
已完结
De novo cerebral cavernous malformations with PIK3CA somatic mutation and EPHB4 germline mutation in a child with multiple developmental venous anomalies and cutaneous vascular malformations
23天前
已完结
Clinical, neuroimaging and molecular characteristics ofPPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype–phenotype analysis
25天前
已完结
Biallelic ANKS6 null variants cause notable extrarenal phenotypes in a nephronophthisis patient and lead to hepatobiliary abnormalities by YAP1 deficiency
27天前
已完结
TSC2 somatic mosaic mutation, including extra-tumor tissue, may be the developmental cause of solitary subependymal giant cell astrocytoma
1个月前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
1个月前
已完结
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]
1个月前
已完结
皖公网安备34019202002308
