Lv11
68 积分 2022-03-11 加入
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
6小时前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
6小时前
已完结
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
4天前
已关闭
Identification of a Novel Oligomerization Disrupting Mutation inCRYΑAAssociated with Congenital Cataract in a South Australian Family
26天前
已完结
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling
1个月前
已完结
Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
1个月前
已关闭
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
2个月前
已关闭
Identification of Multi‐Landscape and Cell Interactions in the Tumor Microenvironment Through High‐Coverage Single‐Cell Sequencing
2个月前
已完结
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism
3个月前
已完结
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
3个月前
已完结
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