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令狐初之
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132 积分
2022-06-21 加入
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Mediastinal Myxofibrosarcoma Harboring Loss-of-Function MSH2 Variant in a Patient With Lynch Syndrome: A Case Report and Literature Review
9天前
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Phenotype-genotype correlations in patients with inherited retinal diseases with p.G1961E mutation in the ABCA4 gene
20天前
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A misleading presentation of Mohr–Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
20天前
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Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN
1个月前
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Novel bi-allelic FBXO7 variants in a family with early-onset typical Parkinson's disease
1个月前
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Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra
1个月前
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Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta
1个月前
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Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations
1个月前
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Genetic Diagnosis of Inborn Errors of Immunity in an Emerging Country: a Retrospective Study of 216 Moroccan Patients
2个月前
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Achromatopsia Showing Compound Heterozygous Mutations in ATF6 by Whole Exome Sequencing: A Rare Case Report
2个月前
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