Lv51
852 积分 2024-01-07 加入
A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability
2天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
2天前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
2天前
已完结
Attention-Deficit/Hyperactivity Disorder Symptoms in Offspring of Mothers With Impaired Serotonin Production
1个月前
已完结
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses
1个月前
已完结
The spectrum of Familial Mediterranean Fever gene ( MEFV ) mutations and genotypes in Iran, and report of a novel missense variant (R204H)
1个月前
已完结
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy
2个月前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
2个月前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
2个月前
已完结
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families
2个月前
已完结
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