Lv41
590 积分 2024-07-16 加入
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
7天前
已完结
Ophthalmic manifestations of NAA10‐related and NAA15‐related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors
1个月前
已完结
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
1个月前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
1个月前
已完结
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene
1个月前
已完结
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients
2个月前
已完结
AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS
2个月前
已完结
Trio‐whole‐exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations
2个月前
已完结
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
2个月前
已完结
Genotype?phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle ?-actin
2个月前
已完结
皖公网安备34019202002308
