Lv31
210 积分 2020-04-09 加入
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
1个月前
已完结
Fetal hydrops caused by a novel pathogenic MECOM variant
2个月前
已完结
Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy
2个月前
已完结
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
2个月前
已完结
Clinical features and pathogenicity assessment in patients with HTRA1-autosomal dominant disease
3个月前
已完结
Genetic features and kidney morphological changes in women with X-linked Alport syndrome
3个月前
已完结
Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers
4个月前
已完结
Novel biallelic ASTL variants are associated with polyspermy and female infertility: A successful live birth following ICSI treatment
4个月前
已完结
ASTL is mutated in female infertility
4个月前
已完结
Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach
4个月前
已完结
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