檢索結果 - Ruth Cleaver

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  1. 1
    Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals

    Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals 由 Claire Forde, Derek Lim, Yousef Alwan, George J. Burghel, Laura Butland, Ruth Cleaver, Abhijit Dixit, D. Gareth Evans, Helen Hanson, Fiona Lalloo, Pedro Oliveira, Lindsey Vialard, Yvonne Wallis, Eamonn R. Maher, Emma R. Woodward

    出版 2019
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  2. 2
    UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:<i>RAD51C</i>,<i>RAD51D</i>,<i>BRIP1</i>and<i>PALB2</i>

    UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes:<i>RAD51C</i>,<i>RAD51D</i>,<i>BRIP1<... 由 Helen Hanson, Anjana Kulkarni, Lucy Loong, Grace Kavanaugh, Bethany Torr, Sophie Allen, Munaza Ahmed, Antonis C. Antoniou, Ruth Cleaver, Tabib Dabir, D. Gareth Evans, Ellen Golightly, Rosalyn Jewell, Kelly Kohut, Ranjit Manchanda, Alex Murray, Jennie Murray, Kai‐Ren Ong, Adam N. Rosenthal, Emma R. Woodward, Diana Eccles, Clare Turnbull, Marc Tischkowitz, Fiona Lalloo

    出版 2022
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  3. 3
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes 由 Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine A. Bax, Petra Zwijnenburg, Ana Arteche‐López, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William D. Newman, Carmen Ayuso, Marta Cortón, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing

    出版 2018
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    Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

    Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome 由 Reham Alharatani, Athina Ververi, Ana Beleza‐Meireles, Weizhen Ji, Emily K. Mis, Quinten Patterson, John N. Griffin, Nabina Bhujel, Caitlin A. Chang, Abhijit Dixit, Monica Konstantino, Christopher Healy, Sumayyah Hannan, Natsuko Neo, Alex Cash, Dong Li, Elizabeth Bhoj, Elaine H. Zackai, Ruth Cleaver, Diana Baralle, Meriel McEntagart, Ruth Newbury‐Ecob, Richard H. Scott, Jane A. Hurst, Ping Yee Billie Au, Marie Thérèse Hosey, Mustafa K. Khokha, Denise K. Marciano, Saquib A. Lakhani, Karen Liu

    出版 2020
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    Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

    Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome 由 Fiona Lalloo, A. Kulkarni, Cindy Chau, Maartje Nielsen, Michael Sheaff, Jeremy Steele, Remco van Doorn, Karin Wadt, Monica Hamill, Beth Torr, Marc Tischkowitz, Munaza Ahmed, Svetlana Lagercrantz, Ana Blatnik, Joan Brunet, Ruth Cleaver, Chrystelle Colas, Tabib Dabir, D. Gareth Evans, Shirin Feshtali, Paola Ghiorzo, Lise Graversen, Klaus Griewank, Hildur Helgadóttir, Rosalyn Jewell, Kelly Kohut, Henrik Lorentzen, Daniela Massi, Guy S. Missotten, Alex Murray, Jennie Murray, Ernest Nadal, Kai Ren Ong, Josep M. Piulats, Susana Puig, Neil Rajan, Simone Ribero, Galateau Salle, Àlex Teulé, Emma Tham, Barbara van Paassen, Robin De Putter, Robert M. Verdijk, Anja Wagner, Emma R. Woodward, Helen Hanson

    出版 2023
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