Lv41
446 积分 2023-10-26 加入
46,XY disorders of sex development: the use of NGS for prevalent variants
7小时前
已完结
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity
9天前
已完结
46,XY disorders of sex development: the use of NGS for prevalent variants
10天前
已完结
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
15天前
已完结
Late‐onset metachromatic leukodystrophy: Molecular pathology in two siblings
15天前
已完结
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
15天前
已完结
Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases
18天前
已完结
Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts
18天前
已完结
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients
18天前
已关闭
Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients
18天前
已完结
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