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Mosaic variegated aneuploidy syndrome: Case report of two brothers

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The Vertebrate Mitotic Checkpoint Protein BUBR1 Is an Unusual Pseudokinase

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Author: Geert J.P.L. Kops
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Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy and its molecular analysis

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High-throughput tracking enables systematic phenotyping and drug repurposing in C. elegans disease models

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Reduced life and healthspan in mice carrying a mono-allelic BubR1 MVA mutation

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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype

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CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome

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Author: Antonio Musio
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Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family

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Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome

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Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

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Author: Nazneen Rahman
Published on: 01/11/2004

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

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Benefits for children with suspected cancer from routine whole-genome sequencing

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Prenatal diagnosis and long-term follow-up of a Chinese patient with mosaic variegated aneuploidy

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Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility

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National Center for Advancing Translational Sciences

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