Ngā hua rapu - Devon Lamb Thrush

  • E whakaatu ana i te 1 - 10 hua o te 10
Whakamahine hua
  1. 1
    Variability in pathogenicity prediction programs: impact on clinical diagnostics

    Variability in pathogenicity prediction programs: impact on clinical diagnostics mā Lauren Walters‐Sen, Sayaka Hashimoto, Devon Lamb Thrush, Shalini C. Reshmi, Julie M. Gastier‐Foster, Caroline Astbury, Robert E. Pyatt

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  2. 2
    Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults.

    Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults. mā Brian Harding, N. Alsanjari, Sarah Smith, C M Wiles, Devon Lamb Thrush, David H. Miller, F Scaravilli, A. E. Harding

    I whakaputaina 1995
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  3. 3
    Novel diagnostic features of dysferlinopathies

    Novel diagnostic features of dysferlinopathies mā Xiomara Q. Rosales, Julie M. Gastier‐Foster, Sarah Lewis, Vinod Malik, Devon Lamb Thrush, Caroline Astbury, Robert E. Pyatt, Shalini C. Reshmi, Zarife Sahenk, Jerry R. Mendell

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  4. 4
    Contactin 4 as an autism susceptibility locus

    Contactin 4 as an autism susceptibility locus mā Catherine E. Cottrell, Natalie Bir, Liz Varga, Carlos E. Alvarez, Samuel Bouyain, Randall C Zernzach, Devon Lamb Thrush, Johnna Evans, Michael P. Trimarchi, Eric Butter, David Cunningham, Julie M. Gastier‐Foster, Kim L. McBride, Gail E. Herman

    I whakaputaina 2011
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  5. 5
    Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

    Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities mā Blake C. Ballif, Aaron Theisen, Jill A. Rosenfeld, Ryan N. Traylor, Julie M. Gastier‐Foster, Devon Lamb Thrush, Caroline Astbury, Dennis Bartholomew, Kim L. McBride, Robert E. Pyatt, Kate Shane-Carson, Wendy E. Smith, Valerie Banks, William Gallentine, Pamela Brock, M. Katharine Rudd, Margaret P Adam, Julia A. Keene, John A. Phillips, Jean P. Pfotenhauer, Gordon C. Gowans, Paweł Stankiewicz, Bassem A. Bejjani, Lisa G. Shaffer

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  6. 6
    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

    Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder mā Michael E. Talkowski, Sureni V. Mullegama, Jill A. Rosenfeld, Bregje W.M. van Bon, Yiping Shen, Elena Repnikova, Julie M. Gastier‐Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M. Ruderfer, Colby Chiang, Carrie Hanscom, Carl Ernst, Amelia M. Lindgren, Cynthia C. Morton, Yu An, Caroline Astbury, Louise Brueton, Klaske D. Lichtenbelt, Lesley C. Adès, Marco Fichera, Corrado Romano, Jeffrey W. Innis, Charles A. Williams, Dennis Bartholomew, Margot I. Van Allen, Aditi Shah Parikh, Lilei Zhang, Bai-Lin Wu, Robert E. Pyatt, Stuart Schwartz, Lisa G. Shaffer, Bert B.A. de Vries, James F. Gusella, Sarah H. Elsea

    I whakaputaina 2011
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  7. 7
    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

    Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus mā Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M. Pardo, Jill A. Rosenfeld, Michael E. Talkowski, Ingrid Simonic, Anath C. Lionel, Sarah Vergult, Robert E. Pyatt, Jiddeke van de Kamp, Aggie Nieuwint, Marjan M. Weiss, Patrizia Rizzu, Lucilla E.N.I. Verwer, Rosalina M.L. van Spaendonk, Yiping Shen, Bai-Lin Wu, Tingting Yu, Yongguo Yu, Colby Chiang, James F. Gusella, Amelia M. Lindgren, Cynthia C. Morton, Ellen van Binsbergen, Saskia Bulk, Els van Rossem, Olivier Vanakker, Ruth Armstrong, Soo-Mi Park, Lynn Greenhalgh, Una Maye, Nicholas J. Neill, Kristin M. Abbott, Susan L. Sell, Roger L. Ladda, Darren Farber, Patricia I. Bader, Tom Cushing, Joanne M. Drautz, Laura Konczal, Patricia Nash, Emily de los Reyes, Melissa T. Carter, Elizabeth Hopkins, Christian R. Marshall, Lucy R. Osborne, Karen W. Gripp, Devon Lamb Thrush, Sayaka Hashimoto, Julie M. Gastier‐Foster, Caroline Astbury, Bauke Ylstra, Hanne Meijers‐Heijboer, Daniëlle Posthuma, Björn Menten, Geert Mortier, Stephen W. Scherer, Evan E. Eichler, Santhosh Girirajan, Nicholas Katsanis, Alexander J. Groffen, Erik A. Sistermans

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  8. 8
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships mā Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Strom P Samuel, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    I whakaputaina 2024
    Whiwhi kuputuhi katoa
    Pré-impressão
    Tiaki ki tētahi rārangi
    I tiakina i:
  9. 9
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships mā Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  10. 10
    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

    An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge mā Catherine A. Brownstein, Alan H. Beggs, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C Flannery, Elizabeth T. DeChene, Meghan C. Towne, Sarah Savage, Emily Price, Ingrid A. Holm, Lovelace J. Luquette, Elaine Lyon, Joseph A. Majzoub, Peter Neupert, David P. McCallie, Peter Szolovits, Huntington F. Willard, Nancy J. Mendelsohn, Renee Temme, Richard S. Finkel, Sabrina W. Yum, Līvija Medne, Shamil Sunyaev, Ivan Adzhubey, Christopher A. Cassa, Paul IW de Bakker, Hatice Duzkale, Piotr Dworzyński, William G. Fairbrother, Laurent C. Francioli, Birgit Funke, Monica A. Giovanni, Robert E. Handsaker, Kasper Lage, Matthew S. Lebo, Monkol Lek, Ignaty Leshchiner, Daniel G. MacArthur, Heather M. McLaughlin, Michael F. Murray, Tune H. Pers, Paz Polak, Soumya Raychaudhuri, Heidi L. Rehm, Rachel Soemedi, Nathan O. Stitziel, Sara Vestecka, Jochen Supper, Claudia Gugenmus, Bernward Klocke, Alexander Hahn, Max Schubach, Mortiz Menzel, Saskia Biskup, Peter Freisinger, Mario C. Deng, Martin Braun, Sven Perner, Richard J. Smith, Janeen L Andorf, Jian Huang, Kelli K. Ryckman, Val C. Sheffield, Edwin M. Stone, Thomas Bair, E. Ann Black-Ziegelbein, Terry A. Braun, Benjamin W. Darbro, Adam P. DeLuca, Diana L. Kolbe, Todd E. Scheetz, A. Eliot Shearer, Rama Sompallae, Kai Wang, Alexander G. Bassuk, Erik Edens, Katherine D. Mathews, Steven A. Moore, Oleg A. Shchelochkov, Pamela Trapane, Aaron Bossler, Colleen A. Campbell, Jonathan W. Heusel, Anne E. Kwitek, Tara Maga, Karin Panzer, Thomas H. Wassink, Douglas J. Van Daele, Héla Azaiez, Kevin T. Booth, Nic Meyer, Michael M. Segal, Marc S. Williams, Gerard Tromp, Peter White, Donald J. Corsmeier, Sara Fitzgerald‐Butt, Gail E. Herman, Devon Lamb-Thrush

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:

Ngā utauta rapu: