Lv21
178 积分 2025-03-23 加入
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome
7小时前
求助中
Associations of plant-based diets with all-cause and cause-specific mortality and life expectancy among participants with cardiometabolic disorders from UK, US, and China
27天前
已完结
Erythropoietin for Neonatal Hypoxic-Ischemic Encephalopathy: A Randomized Clinical Trial
1个月前
已完结
NICHD Magnetic Resonance Brain Imaging Score in Term Infants With Hypoxic-Ischemic Encephalopathy: A Secondary Analysis of a Randomized Clinical Trial
1个月前
已完结
Whole Body Hypothermia for Neonatal Encephalopathy In Preterm Infants 33–35 Weeks Gestation: A Randomized Clinical Trial
1个月前
已完结
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
5个月前
已完结
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion
5个月前
已完结
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome
5个月前
已关闭
Molecular Genetic Analysis of Newborns with Congenital Microcephaly
7个月前
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
7个月前
已完结
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