Lv51
1210 积分 2023-08-09 加入
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
1小时前
待确认
The complexity of kidney disease secondary to collagen IV variants: insights into phenotypic variability from a large Sicilian pedigree
1个月前
已完结
Genotype–Phenotype Correlation in X-Linked Alport Syndrome
1个月前
已关闭
Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort
1个月前
已关闭
Deep brain stimulation for Myoclonus in sialidosis I
1个月前
已完结
Genetic screening and analysis of TUBB8 variants in females seeking ART
2个月前
已完结
Expanding the longitudinal trajectory and genotypes of TBC1D24‐related epilepsy
2个月前
已关闭
Clinical findings and structural analysis involving a patient with a novel KLHL15 variant
2个月前
已完结
An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency
3个月前
已完结
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
3个月前
已完结
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