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64 积分 2023-01-05 加入
Prenatal diagnosis of Noonan syndrome in fetuses with increased nuchal translucency and a normal karyotype
2天前
已关闭
Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression
5天前
已关闭
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
7天前
已完结
Expanding the Phenotypic Spectrum of INTS11-Related Neurodevelopmental Disorder
13天前
已完结
Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties
1个月前
已完结
Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia
1个月前
已关闭
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients
1个月前
已完结
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain
1个月前
已完结
Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss
1个月前
已完结
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
1个月前
已完结
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