检索结果 - Rosemary Ekong

  • Showing 1 - 10 results of 10
Refine Results
  1. 1
    Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings

    Comparison of the functional and structural characteristics of rare <i>TSC2</i> variants with clinical and genetic findings 由 Luiz Gustavo Dufner‐Almeida, Santoesha Nanhoe, Andrea Zonta, Mitra Hosseinzadeh, Regina Kom‐Gortat, Peter Elfferich, Gerben Schaaf, Annegien Kenter, Daniel Kümmel, Nicola Migone, Sue Povey, Rosemary Ekong, Mark Nellist

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool

    Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool 由 Luca Pagani, Toomas Kivisild, Ayele Tarekegn, Rosemary Ekong, Chris Plaster, Irene Gallego Romero, Qasim Ayub, S. Qasim Mehdi, Mark Thomas, Donata Luiselli, Endashaw Bekele, Neil Bradman, David J. Balding, Chris Tyler‐Smith

    出版 2012
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians

    Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians 由 Luca Pagani, Stephan Schiffels, Deepti Gurdasani, Petr Danecek, Aylwyn Scally, Yuan Chen, Yali Xue, Marc Haber, Rosemary Ekong, Tamiru Oljira, Ephrem Mekonnen, Donata Luiselli, Neil Bradman, Endashaw Bekele, Pierre Zalloua, Richard Durbin, Toomas Kivisild, Chris Tyler‐Smith

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Genetic Signatures Reveal High-Altitude Adaptation in a Set of Ethiopian Populations

    Genetic Signatures Reveal High-Altitude Adaptation in a Set of Ethiopian Populations 由 Emilia Huerta‐Sánchez, Michael DeGiorgio, Luca Pagani, Ayele Tarekegn, Rosemary Ekong, Tiago Antão, Alexia Cardona, Hugh Montgomery, Gianpiero L. Cavalleri, Peter A. Robbins, Michael E. Weale, Neil Bradman, Endashaw Bekele, Toomas Kivisild, Chris Tyler‐Smith, Rasmus Nielsen

    出版 2013
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex

    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex 由 Marianne Hoogeveen‐Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, N. Lannoy, Frances Elmslie, Martina Bebin, Kira A. Dies, Catherine Thompson, Steven Sparagana, Peter Maxwell Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley, Mark Nellist

    出版 2013
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex 由 Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie E. Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David J. Kwiatkowski, Julian R. Sampson, C. Vidales, Jacinta Dzarir, Javier Garcı́a-Planells, Kira A. Dies, Anneke Maat‐Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellist

    出版 2011
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    The African Genome Variation Project shapes medical genetics in Africa

    The African Genome Variation Project shapes medical genetics in Africa 由 Deepti Gurdasani, Tommy Carstensen, Fasil Tekola‐Ayele, Luca Pagani, Ioanna Tachmazidou, Konstantinos Hatzikotoulas, Savita Karthikeyan, Louise Iles, Martin Pollard, Ananyo Choudhury, Graham R. S. Ritchie, Yali Xue, Jennifer L. Asimit, Rebecca N. Nsubuga, Elizabeth Young, Cristina Pomilla, Katja Kivinen, Kirk A. Rockett, Anatoli Kamali, Ayo P. Doumatey, Gershim Asiki, Janet Seeley, Fatoumatta Sisay-Joof, Muminatou Jallow, Stephen Tollman, Ephrem Mekonnen, Rosemary Ekong, Tamiru Oljira, Neil Bradman, Kalifa Bojang, Michèle Ramsay, Adebowale Adeyemo, Endashaw Bekele, Ayesha A. Motala, Shane A. Norris, Fraser Pirie, Pontiano Kaleebu, Dominic Kwiatkowski, Chris Tyler‐Smith, Charles N. Rotimi, Eleftheria Zeggini, Manjinder S. Sandhu

    出版 2014
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

    Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel 由 Jie Huang, Bryan Howie, Shane McCarthy, Yasin Memari, Klaudia Walter, Josine L. Min, Petr Danecek, Giovanni Malerba, Elisabetta Trabetti, Hou‐Feng Zheng, Saeed Al Turki, Antoinette Amuzu, Carl A. Anderson, Richard Anney, Dinu Antony, María Soler Artigas, Muhammad Ayub, Senduran Bala, Jeffrey C. Barrett, Inês Barroso, Phil Beales, Marianne Benn, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena G. Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Juan P. Casas, John C. Chambers, Ruth Charlton, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebahattin Çırak, Peter Clapham, Gail Clement, Guy Coates, Massimiliano Cocca, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Ian N.M. Day, Aaron Day-Williams, George Dedoussis, Thomas A. Down, Yuanping Du, Cornelia M. van Duijn, Ian Dunham, Sarah Edkins, Rosemary Ekong, Peter Ellis, David M. Evans, I. Sadaf Farooqi, David Fitzpatrick, Paul Flicek, James Floyd, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Paolo Gasparini, Tom R. Gaunt, Matthias Geihs, Daniel H. Geschwind, Celia M.T. Greenwood, Heather Griffin, Detelina Grozeva, Xiaosen Guo, Xueqin Guo, Hugh Gurling, Deborah Hart, Audrey E. Hendricks, Peter Holmans, Jie Huang, Tim Hubbard, Steve E. Humphries, Matthew E. Hurles, Pirro G. Hysi, Valentina Iotchkova, Aaron Isaacs, David K. Jackson, Yalda Jamshidi, Jon Johnson, Christopher Joyce, Konrad J. Karczewski, Jane Kaye, Thomas Keane, John P. Kemp

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    Planning the Human Variome Project: The Spain report

    Planning the Human Variome Project: The Spain report 由 Jim Kaput, Richard G.H. Cotton, L Hardman, Michael S. Watson, Aida I. Al Aqeel, Jumana Y. Al‐Aama, Fahd Al‐Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge Bernstein, Jong Bhak, Stacey Bléoo, Helmut Blöcker, Steven E. Brenner, John Burn, Mariona Bustamante, Rita Calzone, Anne Cambon‐Thomsen, Michele Cargill, Paola Carrera, Lawrence Cavedon, Yoon Shin Cho, Yeun‐Jun Chung, Mireille Claustres, Garry R. Cutting, Raymond Dalgleish, Johan T. den Dunnen, Carlos Bustamante, Steven F. Dobrowolski, Rosário Santos, Rosemary Ekong, Simon B. Flanagan, Paul Flicek, Yoichi Furukawa, Maurizio Genuardi, Ho Ghang, М. В. Голубенко, Marc S. Greenblatt, Ada Hamosh, John M. Hancock, Ross C. Hardison, Terence Harrison, Robert Hoffmann, Rania Horaitis, Heather J. Howard, Carol Isaacson Barash, Neskuts Izagirre, Jongsun Jung, Toshio Kojima, Sandrine Laradi, Yeon-Su Lee, Jong‐Young Lee, Vera Lúcia Gil‐da‐Silva‐Lopes, Finlay Macrae, Donna Maglott, Makia J. Marafie, Steven G. E. Marsh, Yoichi Matsubara, Ludwine M. Messiaen, Gabriela Möslein, Mihai G. Netea, Melissa Norton, Peter J. Oefner, William S. Oetting, James O’Leary, Ana María Oller Ramírez, Mark H. Paalman, Jillian S. Parboosingh, George P. Patrinos, Giuditta Perozzi, Ian Phillips, Sue Povey, S Prasad, Ming Qi, David J. Quin, Raj Ramesar, C. Sue Richards, Judy Savige, D. Scheible, Rodney J. Scott, Daniela Seminara, Elizabeth A. Shephard, Rolf H. Sijmons, Tim D. Smith, María-Jesús Sobrido, Toshihiro Tanaka, Sean V. Tavtigian, Graham R. Taylor, Jon W. Teague, Thoralf Töpel, Mollie Ullman-Culleré, Joji Utsunomiya, Henk J. van Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K. Weber, Meredith Yeager, Young Il Yeom

    出版 2009
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  10. 10
    Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

    Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations 由 Hope Northrup, Mary E. Aronow, E. Martina Bebin, John J. Bissler, Thomas N. Darling, Petrus J. de Vries, Michael Frost, Zoë Fuchs, Elizabeth S. Gosnell, Nishant Gupta, Anna Jansen, Sergiusz Jóźwiak, J.C. Kingswood, Timothy K. Knilans, Francis X. McCormack, Ashley J. Pounders, Steven L. Roberds, David Rodriguez‐Buritica, Jonathan Roth, Julian R. Sampson, Steven Sparagana, Elizabeth A. Thiele, Howard L. Weiner, James W. Wheless, Alexander J. Towbin, Darcy A. Krueger, Nicholas M. P. Annear, Mary E. Aronow, Ute Bartels, E. Martina Bebin, Moncef Berhouma, John J. Bissler, Klemens Budde, Anna W. Byars, Harry T. Chugani, Edward W. Cowen, Peter B. Crino, Paolo Curatolo, Thomas N. Darling, Petrus de Vries, Daniel F. Dilling, David W. Dunn, Rosemary Ekong, Kevin C. Ess, David Neal Franz, Michael Frost, Zoë Fuchs, Elizabeth S. Gosnell, Lisa M. Guay‐Woodford, Nishant Gupta, Luciana A. Haddad, Anne Halbert, Adelaide A. Hebert, Elizabeth P. Henske, Gregory L. Holmes, Dena Hook, John C. Hulbert, Anna Jansen, Simon R. Johnson, Sergiusz Jóźwiak, Bryan H. King, J.C. Kingswood, Timothy K. Knilans, Mary Kay Koenig, Bruce R. Korf, Darcy A. Krueger, David J. Kwiatkowski, Francis X. McCormack, Joel Moss, David Mowat, Kate Mowrey, Rima Nabbout, Mark Nellist, Hope Northrup, Finbar O’Callaghan, Uday Patel, Ashley J. Pounders, E. Steve Roach, Steven L. Roberds, David Rodriguez‐Buritica, Robb L. Romp, Jonathan Roth, Micaela Rozenberg, Stephen J. Ruoss, Mustafa Şahin, Julian R. Sampson, Joshua Samuels, Matthias Sauter, Catherine Smith, Keyomaurs Soltani, Steven Sparagana, Shoba Srivastava, Clare Stuart, Joyce Teng, Elizabeth A. Thiele, Alexander J. Towbin, Andrew T. Trout, Agnies M. van Eeghen, Stephanie Vanclooster, Henry Z. Wang

    出版 2021
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: