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850 积分 2023-12-05 加入
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
8小时前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
8小时前
待确认
Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation
10天前
已完结
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*
14天前
已完结
Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy
21天前
已完结
Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy
21天前
已完结
Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia
27天前
已完结
PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases
29天前
已完结
Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center
1个月前
已完结
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
1个月前
已关闭
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