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喻白玉
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120 积分
2021-12-01 加入
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Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms
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待确认
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
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Optimising clinical care throughCDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines
3个月前
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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension
3个月前
已完结
[Genetic analysis of a child patient with rare fibrochondrogenesis due to COL11A1 gene variant]
4个月前
已完结
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities
4个月前
已完结
[Genetic analysis of a child patient with rare fibrochondrogenesis due to COL11A1 gene variant]
4个月前
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