Lv1
48 积分 2021-08-31 加入
Mitochondrial and glucose metabolic dysfunctions in granulosa cells induce impaired oocytes of polycystic ovary syndrome through Sirtuin 3
2天前
已完结
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients
3天前
已完结
Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence
3天前
已完结
Identification of novel mutations in hereditary spherocytosis patients by whole-exome sequencing
3天前
已完结
Biallelic truncating TTN variants in M‐band encoding exons cause a fetal lethal titinopathy
19天前
已完结
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
24天前
已完结
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients
24天前
已完结
Implication of androgen receptor gene dysfunction in human Müllerian duct anomalies
24天前
已完结
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
1个月前
已完结
Congenital heart defects in molecularly confirmed KBG syndrome patients
1个月前
已完结
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