Resultats de la cerca - Oliver Quarrell

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  1. 1
    Syndromes with lissencephaly.

    Syndromes with lissencephaly. per Daniela T. Pilz, Oliver Quarrell

    Publicat 1996
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  2. 2
    Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

    Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. per Simon Horslen, Oliver Quarrell, M S Tanner

    Publicat 1994
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  3. 3
    The Global Prevalence of Huntington’s Disease: A Systematic Review and Discussion

    The Global Prevalence of Huntington’s Disease: A Systematic Review and Discussion per Sheharyar Baig, Mark Strong, Oliver Quarrell

    Publicat 2016
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  4. 4
    The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis

    The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis per Oliver Quarrell, Kirsty O’Donovan, Oliver Bandmann, Mark Strong

    Publicat 2012
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  5. 5
    EXCLUSION TESTING FOR HUNTINGTON'S DISEASE IN PREGNANCY WITH A CLOSELY LINKED DNA MARKER

    EXCLUSION TESTING FOR HUNTINGTON'S DISEASE IN PREGNANCY WITH A CLOSELY LINKED DNA MARKER per Oliver Quarrell, Audrey Tyler, Meena Upadhyaya, Andrea L. Meredith, S Youngman, Peter S. Harper

    Publicat 1987
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  6. 6
    Managing Juvenile Huntington’s Disease

    Managing Juvenile Huntington’s Disease per Oliver Quarrell, Martha Nance, Peg Nopoulos, Jane S. Paulsen, Jonathan A. Smith, Ferdinando Squitieri

    Publicat 2013
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  7. 7
    Linkage disequilibrium in Huntington's disease: an improved localisation for the gene.

    Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. per Russell G. Snell, L. Lazarou, S Youngman, Oliver Quarrell, John J. Wasmuth, Duncan J. Shaw, Peter S. Harper

    Publicat 1989
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  8. 8
    22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium

    22 Years of predictive testing for Huntington’s disease: the experience of the UK Huntington’s Prediction Consortium per Sheharyar Baig, Mark Strong, Elisabeth Rosser, Nicola V. Taverner, Ruth Glew, Zosia Miedzybrodzka, Angus Clarke, David Craufurd, Oliver Quarrell

    Publicat 2016
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  9. 9
    Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.

    Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. per Jane Theilmann, S Kanani, Rita Shiang, Carolyn Robbins, Oliver Quarrell, Marlene J. Huggins, A Hedrick, Bernhard H. F. Weber, Colin C. Collins, John J. Wasmuth

    Publicat 1989
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  10. 10
    Genetic professionals' reports of nondisclosure of genetic risk information within families

    Genetic professionals' reports of nondisclosure of genetic risk information within families per Angus Clarke, Martin Richards, L Kerzin-Storrar, Jane Halliday, Mary Young, Sheila A Simpson, Katie Featherstone, Karen Forrest, Anneke Lucassen, Patrick J. Morrison, Oliver Quarrell, Helen Stewart

    Publicat 2005
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  11. 11
    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome per Peter Hammond, Femke Hannes, Michael Suttie, Koenraad Devriendt, Joris Vermeesch, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steven Williams, Dominic McMullan, Sarah T. South, John C. Carey, Oliver Quarrell

    Publicat 2011
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  12. 12
    Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

    Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development per Heather L. Wilson, John A. Crolla, Dena Walker, Lina Artifoni, Bruno Dallapiccola, Takako Takano, Pradeep Vasudevan, Shuwen Huang, V.K. Maloney, Twila M. Yobb, Oliver Quarrell, Heather E. McDermid

    Publicat 2008
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  13. 13
    Diagnostic genetic testing for Huntington's disease

    Diagnostic genetic testing for Huntington's disease per David Craufurd, Rhona MacLeod, Marina Frontali, Oliver Quarrell, Emilia K. Bijlsma, Mary B. Davis, Lena E. Hjermind, Nayana Lahiri, Paola Mandich, A. Martinez, Aad Tibben, Raymund A.C. Roos

    Publicat 2014
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  14. 14
    Clinical Review of Juvenile Huntington’s Disease

    Clinical Review of Juvenile Huntington’s Disease per Mayke Oosterloo, Alexiane Touzé, Lauren M. Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn B. Lammert, Martha Nance, Peg Nopoulos, Ralf Reilmann, Carsten Saft, Helen Santini, Ferdinando Squitieri, Sarah J. Tabrizi, Jean‐Marc Burgunder, Oliver Quarrell

    Publicat 2024
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  15. 15
    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations per Gabriela Jones, Pia Østergaard, Anthony T. Moore, Fiona Connell, Denise Williams, Oliver Quarrell, Angela F. Brady, Isabel Spier, Fılız Hazan, Oana Moldovan, Dagmar Wieczorek, Barbara Mikat, Florence Petit, Christine Coubes, Robert A. Saul, Glen Brice, Kristiana Gordon, Steve Jeffery, Peter Mortimer, Pradeep Vasudevan, Sahar Mansour

    Publicat 2013
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  16. 16
    Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study

    Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study per Oliver Quarrell, Alan S. Rigby, L Barron, Yanick J. Crow, A. Dalton, N R Dennis, Alan Fryer, Frances Heydon, Esther Kinning, Alison Lashwood, Monique Losekoot, L Margerison, Shannon K. McDonnell, Patrick J. Morrison, Andrew Norman, Michael Peterson, F. Lucy Raymond, Sharon Simpson, Elizabeth Thompson, Jon Warner

    Publicat 2006
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  17. 17
    Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

    Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans per Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, Valérie Biancalana, Robert J. Gorlin, Denise Horn, Susan Kenwrick, Chong Ae Kim, Éva Morava, Ruth Newbury‐Ecob, Karen Helene Ørstavik, Oliver Quarrell, Charles E. Schwartz, Deborah Shears, Mohnish Suri, John Kendrick‐Jones, Andrew O.M. Wilkie

    Publicat 2003
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  18. 18
    Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

    Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling per Yun Li, Kathrin Laue, Samia A. Temtamy, Mona Aglan, Leman Damla Kotan, Gökhan Yigit, Husniye Canan, Barbara Pawlik, Gudrun Nürnberg, Emma Wakeling, Oliver Quarrell, Ingelore Baessmann, Matthew B. Lanktree, M. Yılmaz, Robert A. Hegele, Khalda Amr, Klaus W. May, Peter Nürnberg, A. Kemal Topaloğlu, Matthias Hammerschmidt, Bernd Wollnik

    Publicat 2010
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  19. 19
    The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

    The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis per Mehmet Bakırcıoğlu, Ofélia P. Carvalho, Maryam Khurshid, James J. Cox, Beyhan Tüysüz, Tanyeri Barak, Saliha Yılmaz, Ahmet Okay Çağlayan, Alp Di̇nçer, Adeline K. Nicholas, Oliver Quarrell, Kelly Springell, Gulshan Karbani, Saghira Malik, Caroline Gannon, Eamonn Sheridan, Moira Crosier, Steven Lisgo, Susan Lindsay, Kaya Bilgüvar, Fanni Gergely, Murat Günel, C. Geoffrey Woods

    Publicat 2011
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  20. 20
    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

    Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy per Pia Østergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona Connell, Andreas van Impel, Anthony T. Moore, Bart Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Inés Martínez‐Corral, Sophie Devery, Jules G. Leroy, Lut Van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte‐Merker, Taija Mäkinen, Miikka Vikkula, Peter Mortimer, Sahar Mansour, Steve Jeffery

    Publicat 2012
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