Hasil Pencarian - Mark O'Driscoll

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  1. 1
    LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

    LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this conditi... oleh Lesley Hart, Anita Rauch, Antony M. Carr, Joris R. Vermeesch, Mark O’Driscoll

    Diterbitkan 2014-05-01
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  2. 2
    Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

    Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome. oleh Emily Outwin, Gillian Carpenter, Weimin Bi, Marjorie A Withers, James R Lupski, Mark O'Driscoll

    Diterbitkan 2011-08-01
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  3. 3
    Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

    Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. oleh Tom Stiff, Meryem Alagoz, Diana Alcantara, Emily Outwin, Han G Brunner, Ernie M H F Bongers, Mark O'Driscoll, Penny A Jeggo

    Diterbitkan 2013-01-01
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  4. 4
    Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

    Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. oleh Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter, Katrina Prescott, Mohnish Suri, Philip J Byrd, Michiko Matsuse, Norisato Mitsutake, Yuka Nakazawa, Pradeep Vasudevan, Margaret Barrow, Grant S Stewart, A Malcolm R Taylor, Mark O'Driscoll, Penny A Jeggo

    Diterbitkan 2012-01-01
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