检索结果 - Leema Robert

  • Showing 1 - 10 results of 10
Refine Results
  1. 1
    Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome

    Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome 由 Peter H. Byers, John W. Belmont, James H. Black, Julie De Backer, Michael Frank, Xavier Jeunemaı̂tre, Diana Johnson, Melanie Pepin, Leema Robert, Lynn Sanders, Nigel Wheeldon

    出版 2017
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  2. 2
    Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

    Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease 由 Yskert Von Kodolitsch, Anthony Demolder, Evaldas Girdauskas, Harald Kaemmerer, Katharina Kornhuber, Laura Muiño Mosquera, Shaine A. Morris, Enid Neptune, Reed E. Pyeritz, Svend Rand‐Hendriksen, Alexander Rahman, Nina Riise, Leema Robert, Ingmar Staufenbiel, Katalin Szöcs, Thy Thy Vanem, Stephan J. Linke, Marina Vogler, Anji T. Yetman, Julie De Backer

    出版 2019
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  3. 3
    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

    Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection 由 Marjolijn Renard, Catherine Francis, Rajarshi Ghosh, Alan L. Scott, P. Dane Witmer, Lesley C. Adès, Grégor Andelfinger, Pauline Arnaud, Cathérine Boileau, Bert Callewaert, Dongchuan Guo, Nadine Hanna, Mark E. Lindsay, Hiroko Morisaki, Takayuki Morisaki, Nicholas Pachter, Leema Robert, Lut Van Laer, Harry C. Dietz, Bart Loeys, Dianna M. Milewicz, Julie De Backer

    出版 2018
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability

    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability 由 Mark Hamilton, Richard Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury‐Ecob, Soo‐Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O.M. Wilkie, The Deciphering Developmental Disor Study, Stephen R.F. Twigg, Mohnish Suri

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

    Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing 由 Laurence Nunn, Luís R. Lopes, Petros Syrris, Cian Murphy, Vincent Plagnol, Eileen Firman, Chrysoula Dalageorgou, Esther Zorio, Diana Domingo, Victoria Murday, Iain Findlay, Alexis E. Duncan, Gerry Carr‐White, Leema Robert, Teofila Bueser, Caroline Langman, Simon P. Fynn, Martin Goddard, Anne White, Henning Bundgaard, Laura Ferrero‐Miliani, Nigel Wheeldon, S. Kim Suvarna, Aliceson O'Beirne, Martin Löwe, William J. McKenna, Perry Elliott, Pier D. Lambiase

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

    Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield 由 Kate Thomson, Elizabeth Ormondroyd, Andrew R. Harper, Tim Dent, Karen McGuire, John Baksi, Edward Blair, Paul Brennan, Rachel Buchan, Teofila Bueser, Carolyn Campbell, Gerald Carr‐White, Stuart A. Cook, Matthew J. Daniels, Sri V. V. Deevi, Judith Goodship, Jesse B.G. Hayesmoore, Alex Henderson, Teresa M. Lamb, Sanjay Prasad, Paula Rayner-Matthews, Leema Robert, Linda Sneddon, Hannah Stark, Roddy Walsh, James S. Ware, Martin Farrall, Hugh Watkins

    出版 2018
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Association of Titin Variations With Late-Onset Dilated Cardiomyopathy

    Association of Titin Variations With Late-Onset Dilated Cardiomyopathy 由 Antonio Cannatà, Marco Merlo, Matteo Dal Ferro, Giulia Barbati, Paolo Manca, Alessia Paldino, Sharon Graw, Marta Gigli, Davide Stolfo, Renée Johnson, Darius Roy, Kevin Tharratt, Daniel I. Bromage, Jean Jirikowic, Antonio Abbate, Allison Goodwin, Krishnasree Rao, Amr Marawan, Gerry Carr‐White, Leema Robert, Victoria N. Parikh, Euan A. Ashley, Theresa A. McDonagh, Neal K. Lakdawala, Diane Fatkin, Matthew R.G. Taylor, Luisa Mestroni, Gianfranco Sinagra

    出版 2022
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    The 2017 international classification of the Ehlers–Danlos syndromes

    The 2017 international classification of the Ehlers–Danlos syndromes 由 Fransiska Malfait, Clair A. Francomano, Peter H. Byers, John W. Belmont, Britta Berglund, James H. Black, Lara Bloom, Jessica Bowen, Angela F. Brady, Nigel Burrows, Marco Castori, Helen Cohen, Marina Colombi, Serwet Demirdas, Julie De Backer, Anne De Paepe, Sylvie Fournel‐Gigleux, Michael Frank, Neeti Ghali, Cecilia Giunta, Rodney Grahame, Alan J. Hakim, Xavier Jeunemaı̂tre, Diana Johnson, Birgit Juul‐Kristensen, Ines Kapferer‐Seebacher, Hanadi Kazkaz, Tomoki Kosho, Mark E. Lavallee, Howard P. Levy, Roberto Mendoza‐Londono, Melanie Pepin, F. Michael Pope, Eyal Reinstein, Leema Robert, Marianne Rohrbach, Lynn Sanders, Glenda Sobey, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Nigel Wheeldon, Johannes Zschocke, Brad T. Tinkle

    出版 2017
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

    Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing 由 Alejandro Sifrim, Marc‐Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H. Al Turki, Bernard Thienpont, Jeremy F. McRae, Tomas Fitzgerald, Tarjinder Singh, G. Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul‐Khaliq, Siddharth Banka, Ulrike Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu’Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba Louw, Ashok Kumar Manickara, Dorin Manase, Karen McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury‐Ecob, Seham Osman Babiker Omer, Willem H. Ouwehand, Soo‐Mi Park, Michael Parker, Thomas Pickardt, Martin Pollard, Leema Robert, David J. Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers E.F. Daubeney, Bernard Keavney, Judith Goodship, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Koenraad Devriendt, David Fitzpatrick, J. David Brook, Matthew E. Hurles

    出版 2016
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders 由 Ivana Lessel, Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler, Jennifer E. Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martin, Valeria Capra, Paúl Cárdenas, Céline Chappé, Hey Chong, Benjamin Cogné, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K. Fitzgerald, Silvana Gangi, Jaya K. George‐Abraham, Müge Güçsavaş‐Çalıkoğlu, Tobias B. Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay Jin, Alexander A.L. Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, E Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M. Leal, Juha Leppälä, Sharon Luu, Gholson J. Lyon, Suneeta Madan-Khetarpal, Maria Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menéndez, Chantal F. Morel, Sue Moyer Harasink, Dayna‐Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew Pastore, Yezmin Perilla‐Young, Konrad Platzer, Nina Powell‐Hamilton, Rachel Rabin, Aisha Rekab, Raíssa Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer L. Sullivan, Katalin Szakszon, Queenie K.‐G. Tan, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R. Lupski, Eva Tolosa, Davor Lessel

    出版 2025
    获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: