Lv4
560 积分 2024-07-16 加入
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey
19天前
已完结
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population
2个月前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
2个月前
已完结
Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China
3个月前
已完结
Ophthalmic manifestations of NAA10‐related and NAA15‐related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors
4个月前
已完结
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey
4个月前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
4个月前
已完结
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene
4个月前
已完结
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients
5个月前
已完结
AUTOSOMAL RECESSIVE VITELLIFORM MACULAR DYSTROPHY IN A LARGE COHORT OF VITELLIFORM MACULAR DYSTROPHY PATIENTS
5个月前
已完结
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