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Publications by Niall P. Keegan

Breakpoint Junction Features of Seven DMD Deletion Mutations

Human Genome Variation

Molecular Biology

English

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De Novo Mutations in Sporadic Deletional Duchenne Muscular Dystrophy (DMD) Cases

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Redefined Genomic Architecture in 15q24 Directed by Patient Deletion/Duplication Breakpoint Mapping

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Hereditary Hemorrhagic Telangiectasia: Breakpoint Characterization of a Novel Large Deletion inACVRL1Suggests the Causing Mechanism

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Breakpoint Identification, Detection and Frequency of the 65-Kb Deletion in the Cystinosis Gene, CTNS

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Similarity of DMD Gene Deletion and Duplication in the Chinese Patients Compared to Global Populations

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An Unusual Termination of Seven Veins in the Jugulo-Subclavian Junction

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Characterization of Seven Novel Mutations Causing Factor XI Deficiency

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Canine Osteosarcoma Genome Sequencing Identifies Recurrent Mutations in DMD and the Histone Methyltransferase Gene SETD2

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Some Features of the Triple Junction Motion in Aluminium

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