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  1. 1
    Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene

    Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene von Ververi, Athina, Islam, Lily, Bewes, Beverley, Busby, Louise, Sullivan, Caroline, Canham, Natalie

    Veröffentlicht in Cytogenetic and genome research

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  2. 2
    16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

    16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2 von Barber, John C K, Hall, Victoria, Maloney, Viv K, Huang, Shuwen, Roberts, Angharad M, Brady, Angela F, Foulds, Nicki, Bewes, Beverley, Volleth, Marianne, Liehr, Thomas, Mehnert, Karl, Bateman, Mark, White, Helen


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  3. 3
    Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

    Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype von BARBER, John C. K, MALONEY, Viv K, BEWES, Beverley, WAKELING, Emma


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