ADGRV1 is implicated in myoclonic epilepsy
Myers, Kenneth A., Nasioulas, Steven, Boys, Amber, McMahon, Jacinta M., Slater, Howard, Lockhart, Paul, Sart, Desirée du, Scheffer, Ingrid E.
Published in Epilepsia (Copenhagen) (01.02.2018)
Published in Epilepsia (Copenhagen) (01.02.2018)
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Journal Article
High-Resolution Identification of Chromosomal Abnormalities Using Oligonucleotide Arrays Containing 116,204 SNPs
Slater, Howard R., Bailey, Dione K., Ren, Hua, Cao, Manqiu, Bell, Katrina, Nasioulas, Steven, Henke, Robert, Choo, K.H. Andy, Kennedy, Giulia C.
Published in American journal of human genetics (01.11.2005)
Published in American journal of human genetics (01.11.2005)
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Journal Article
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)
Coman, David, Yaplito-Lee, Joy, La, Phung, Nasioulas, Steven, Bruno, Damien, Slater, Howard R., Stock-Myer, Sharyn E., Lynch, Elly L., Gardner, R.J. McKinlay
Published in Molecular genetics and metabolism (01.03.2010)
Published in Molecular genetics and metabolism (01.03.2010)
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Journal Article
Analysis of SNP content of 82 common copy-number polymorphisms from the Database of Genomic Variations
Slater, Howard R, Bailey, Dione K, Ren, Hua, Cao, Manqiu, Bell, Katrina, Nasioulas, Steven, Henke, Robert, Choo, K H Andy, Kennedy, Giulia C
Published in American journal of human genetics (01.04.2006)
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Published in American journal of human genetics (01.04.2006)
Journal Article
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability
Bateman, John F., Freddi, Susanna, Lamandé, Shireen R., Byers, Peter, Nasioulas, Steven, Douglas, Jenny, Otway, Robyn, Kohonen-Corish, Maija, Edkins, Edward, Forrest, Susan
Published in Human mutation (1999)
Published in Human mutation (1999)
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Journal Article
Two novel mutations in exons 5 and 15 of the adenomatous polyposis coli (APC) gene
Delatycki, Martin, Nasioulas, Steven, Forshaw, Karina, Forrest, Susan
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)
Coman, David, Yaplito-Lee, Joy, La, Phung, Nasioulas, Steven, Bruno, Damien, Slater, Howard R, Stock-Myer, Sharyn E, Lynch, Elly L, Gardner, R J McKinlay
Published in Molecular genetics and metabolism (01.03.2010)
Published in Molecular genetics and metabolism (01.03.2010)
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