Lv1
20 积分 2023-02-28 加入
Registry‐Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders
5天前
已完结
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis
6天前
已完结
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
6天前
已完结
Secondary genomic findings in the 2020 China Neonatal Genomes Project participants
6天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
6天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
6天前
已完结
Allele frequency of pathogenic variants related to adult‐onset Mendelian diseases
7天前
已完结
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
16天前
已完结
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
19天前
已完结
Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism
22天前
已完结
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