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Xuanzhu Liu

23

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356

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LOVD‐DASH: A Comprehensive LOVD Database Coupled with Diagnosis and an At–risk Assessment System for Hemoglobinopathies

2019 Human Mutation
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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

2018
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Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

2018 European Journal of Endocrinology
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Exome sequencing identified FGF12 as a novel candidate gene for Kashin-Beck disease

2016 Functional & Integrative Genomics
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The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

2015 European Journal of Human Genetics
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Research and practice of developing English majors’ competence in e-commerce

2015
- Xuanzhu Liu
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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

2015 PLOS ONE
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An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

2015 BMC Medical Genetics
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A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

2015 European Journal of Medical Genetics
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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

2015 Human Mutation
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Citations (48)