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奔跑的酱油
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2022-05-11 加入
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Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study
1个月前
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
1个月前
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Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification
1个月前
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Recurrent microdeletion 2q21.1: Report on a new patient with neurological disorders
3个月前
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Parental Mosaicism in “De Novo” Epileptic Encephalopathies
3个月前
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Contribution of rare and low-frequency whole-genome sequence variants to complex traits variation in dairy cattle
3个月前
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A Japanese case of β-ureidopropionase deficiency with dysmorphic features
3个月前
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First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene
4个月前
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Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome
4个月前
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Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation
4个月前
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