Resultados de procura - Kate Chandler

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  1. 1
    Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

    Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome por Kate Chandler

    Publicado 2003
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  2. 2
    Ischaemic and haemorrhagic stroke in the dog

    Ischaemic and haemorrhagic stroke in the dog por Annette Wessmann, Kate Chandler, Laurent Garosi

    Publicado 2008
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  3. 3
    The efficacy and tolerability of levetiracetam in pharmacoresistant epileptic dogs

    The efficacy and tolerability of levetiracetam in pharmacoresistant epileptic dogs por Holger A. Volk, Lara Matiasek, Alejandro Luján Feliu‐Pascual, Simon R. Platt, Kate Chandler

    Publicado 2007
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  4. 4
    Fanconi anaemia,<i>BRCA2</i>mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling

    Fanconi anaemia,<i>BRCA2</i>mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling por Stefan Meyer, Marc Tischkowitz, Kate Chandler, Alan Gillespie, Jillian M. Birch, D. Gareth Evans

    Publicado 2013
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  5. 5
    Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q

    Pseudohypoparathyroidism Type 1b due to Paternal Uniparental Disomy of Chromosome 20q por Abhijit Dixit, Kate Chandler, Margaret Lever, Rebecca Poole, H. Bullman, M.Z. Mughal, Margaret Steggall, Mohnish Suri

    Publicado 2012
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  6. 6
    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome

    De novo mutations in <i>HNRNPU</i> result in a neurodevelopmental syndrome por T. Michael Yates, Pradeep Vasudevan, Kate Chandler, Deirdre E. Donnelly, Zornitza Stark, Simon Sadedin, Josh Willoughby, Meena Balasubramanian

    Publicado 2017
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  7. 7
    Long‐term outcome of Cavalier King Charles spaniel dogs with clinical signs associated with Chiari‐like malformation and syringomyelia

    Long‐term outcome of Cavalier King Charles spaniel dogs with clinical signs associated with Chiari‐like malformation and syringomyelia por Ioannis N. Plessas, Clare Rusbridge, Colin Driver, Kate Chandler, Ashley Craig, Imelda M. McGonnell, Dave C. Brodbelt, Holger A. Volk

    Publicado 2012
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  8. 8
    Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome

    Deletions in the<i>VPS13B</i>(<i>COH1</i>) gene as a cause of Cohen syndrome por Irina Balikova, A‐E Lehesjoki, Thomy de Ravel, Bernard Thienpont, Kate Chandler, Jill Clayton‐Smith, A L Träskelin, J-P. Fryns, Joris Vermeesch

    Publicado 2009
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  9. 9
    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of published literature

    Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with<i>de novo</i>, heterozygous, loss-of-function mutations in<i>ASXL3</i>and review of publishe... por Meena Balasubramanian, Josh Willoughby, Andrew E. Fry, Astrid Weber, Helen V. Firth, Charu Deshpande, Jonathan Berg, Kate Chandler, Kay Metcalfe, Wayne Lam, Daniela T. Pilz, Susan Tomkins

    Publicado 2017
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  10. 10
    Regulation and role of REST and REST4 variants in modulation of gene expression in in vivo and in vitro in epilepsy models

    Regulation and role of REST and REST4 variants in modulation of gene expression in in vivo and in vitro in epilepsy models por Eleanor Mary Spencer, Kate Chandler, K. Haddley, Mark R. Howard, David J. Hughes, Nikolai D. Belyaev, Judy M. Coulson, James P. Stewart, Noel J. Buckley, Anja Kipar

    Publicado 2006
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  11. 11
    A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping

    A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping por Gemma Walmsley, Virginia Arechavala‐Gomeza, Marta Fernández-Fuente, Margaret Burke, Nicole Nagel, Angela Holder, Rachael Stanley, Kate Chandler, Stanley L. Marks, Francesco Muntoni, G. Diane Shelton, Richard J. Piercy

    Publicado 2010
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  12. 12
    Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

    Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals por Mira Kharbanda, Daniela T. Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Smith, John Burn, Usha Kini, Anna de Burca, David Fitzpatrick, Esther Kinning

    Publicado 2016
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  13. 13
    Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

    Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport por Juha Kolehmainen, Graeme Black, Anne Saarinen, Kate Chandler, Jill Clayton‐Smith, Ann‐Liz Träskelin, Rahat Perveen, Satu Kivitie‐Kallio, Reijo Norio, Mette Warburg, Jean‐Pierre Fryns, Albert de la Chapelle, Anna‐Elina Lehesjoki

    Publicado 2003
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  14. 14
    Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth

    Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth por Dan Hanson, Philip Murray, James O’Sullivan, Jill Urquhart, Sarah B. Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars Skae, Claire E. L. Smith, Trevor Cole, Jeremy Kirk, Kate Chandler, Helen Kingston, Dian Donnai, Peter Clayton, Graeme Black

    Publicado 2011
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  15. 15
    Contribution of retrotransposition to developmental disorders

    Contribution of retrotransposition to developmental disorders por Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick Short, Alejandro Sifrim, Tarjinder Singh, Kate Chandler, Emma Clement, Katherine Lachlan, Katrina Prescott, Elisabeth Rosser, David Fitzpatrick, Helen V. Firth, Matthew E. Hurles

    Publicado 2019
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  16. 16
    Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

    Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen por Juha Kolehmainen, Robert N. Wilkinson, Anna-Elina Lehesjoki, Kate Chandler, Satu Kivitie‐Kallio, Jill Clayton‐Smith, Ann-Liz Träskelin, Laura Waris, Anne Saarinen, Jabbar Khan, Varda Gross‐Tsur, Elias I. Traboulsi, Mette Warburg, Jean‐Pierre Fryns, Reijo Norio, Graeme Black, Forbes D.C. Manson

    Publicado 2004
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  17. 17
    Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

    Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling por Dan Hanson, Philip Murray, Tessa Coulson, Amit Sud, Ajibola Omokanye, Emily Stratta, Faezeh Sakhinia, C Bonshek, Laura C. Wilson, Emma Wakeling, Samia A. Temtamy, Mona Aglan, Elisabeth Rosser, Sahar Mansour, Atilano Carcavilla, Sheela Nampoothiri, Waqas Khan, Indraneel Banerjee, Kate Chandler, Graeme Black, Peter Clayton

    Publicado 2012
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  18. 18
    Evaluation of Brain Tissue or Cerebrospinal Fluid with Broadly Reactive Polymerase Chain Reaction for<i>Ehrlichia, Anaplasma</i>, Spotted Fever Group<i>Rickettsia, Bartonella</i>, and<i>Borrelia</i>Species in Canine Neurological Diseases (109 Cases)

    Evaluation of Brain Tissue or Cerebrospinal Fluid with Broadly Reactive Polymerase Chain Reaction for<i>Ehrlichia, Anaplasma</i>, Spotted Fever Group<i>Rickettsia, Bartonella</i>,... por Renee M. Barber, Q. Li, Pedro Diniz, Brian F. Porter, Edward B. Breitschwerdt, Mary Kate Claiborne, Adam J. Birkenheuer, Jonathan M. Levine, Gwendolyn J. Levine, Kate Chandler, Patrick Kenny, Peter P. Nghiem, Su‐Huai Wei, C. E. Greene, Marc Kent, Simon R. Platt, Kimberly A. Greer, Scott J. Schatzberg

    Publicado 2010
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  19. 19
    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

    Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome por Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate Chandler, Bronwyn Kerr, May Tassabehji, Sally Ann Lynch, Małgorzata Krajewska‐Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

    Publicado 2011
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  20. 20
    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

    Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance por Emma M.M. Burkitt Wright, Helen Spencer, Sarah B. Daly, Forbes D.C. Manson, Leo Zeef, Jill Urquhart, Nicoletta Zoppi, R E Bonshek, Ioannis Tosounidis, Meyyammai Mohan, Colm Madden, Annabel Dodds, Kate Chandler, Siddharth Banka, Leon Au, Jill Clayton‐Smith, Naz Khan, Leslie G. Biesecker, Meredith Wilson, Marianne Rohrbach, Marina Colombi, Cecilia Giunta, Graeme Black

    Publicado 2011
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