Søgeresultater - Christèle du Souich

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  1. 1
    Phenotypic Variation in Heterozygous Familial Hypercholesterolemia

    Phenotypic Variation in Heterozygous Familial Hypercholesterolemia af Simon N. Pimstone, Xi‐Ming Sun, Christèle du Souich, Jiří Fröhlich, Michael R. Hayden, Anne K. Soutar

    Udgivet 1998
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    Artigo
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  2. 2
    The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

    The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study af Nick Dragojlovic, Alison M. Elliott, Shelin Adam, Clara van Karnebeek, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Christèle du Souich, Jan M. Friedman, Larry D. Lynd

    Udgivet 2018
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    Revisão
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  3. 3
    The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

    The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders af Nick Dragojlovic, Clara van Karnebeek, Aisha Ghani, Dallas Genereaux, Ellen Kim, Patricia Birch, Shelin Adam, Nick Dragojlovic, Christèle du Souich, Alison M. Elliott, Anna Lehman, Larry D. Lynd, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Alison M. Elliott, Jan M. Friedman, Larry D. Lynd

    Udgivet 2019
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    Artigo
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  4. 4
    Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions

    Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions af Indhu‐Shree Rajan‐Babu, Junran J. Peng, Readman Chiu, Patricia Birch, Madeline Couse, Colleen Guimond, Anna Lehman, Jill Mwenifumbo, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Chenkai Li, Arezoo Mohajeri, Egor Dolzhenko, Michael A. Eberle, İnanç Birol, Jan M. Friedman

    Udgivet 2021
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    Artigo
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  5. 5
    Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

    Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome af Keith W. McLarren, Tesa Severson, Christèle du Souich, David W. Stockton, Lisa E. Kratz, David Cunningham, Glenda Hendson, Ryan D. Morin, Diane Wu, Jessica E. Paul, Jianghong An, Tanya N. Nelson, Athena Chou, Andrea E. DeBarber, Louise S. Merkens, Jacques L. Michaud, Paula J. Waters, Jingyi Yin, Barbara McGillivray, Michelle Demos, Guy A. Rouleau, Karl‐Heinz Grzeschik, Raffaella Smith, Patrick Tarpey, Debbie Shears, Charles E. Schwartz, Jozef Gécz, Michael R. Stratton, Laura Arbour, Jane Hurlburt, Margot I. Van Allen, Gail E. Herman, Yongjun Zhao, Richard Moore, Richard I. Kelley, Steven J.M. Jones, Robert D. Steiner, F. Lucy Raymond, Marco A. Marra, Cornelius F. Boerkoel

    Udgivet 2010
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  6. 6
    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

    Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy af Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Tom W. Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William T. Gibson, Gabriella Horváth, Linda Huh, Tanya N. Nelson, Graham Sinclair, Tamsin Tarling, Eric Toyota, Katelin N. Townsend, Margot I. Van Allen, Clara van Karnebeek, Suzanne Vercauteren

    Udgivet 2017
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    Artigo
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  7. 7
    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders af Víctor Faúndes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton‐Smith, Bruno Dallapiccola, Sally Davies, Michelle Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela F. Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson

    Udgivet 2017
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    Artigo
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