Kết quả tìm kiếm - Eleanor Hay

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  1. 1
    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders

    The Phenotypic Continuum of <i>ATP1A3</i> -Related Disorders Bằng Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder‐Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh Mordekar, Miranda Splitt, Peter D. Turnpenny, D.Z. Demetriou, Tamara T. Koopmann, Claudia Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Holder, Jessica A. Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian

    Được phát hành 2022
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    Revisão
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  2. 2
    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

    Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation Bằng Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, K Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, L Thibaut, Jonathan Williams, Edward Blair, Fiona Blanco‐Kelly, Angela Bloss, Emma Burkitt‐Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa Lees, Harry G. Leitch, Jenny E.V. Morton, Andrea H. Németh, Shwetha Ramachandrappa, Katherine Saunders, Deborah Shears, Lucy Side, Miranda Splitt, A. Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, R. W. Davies, Andrew O.M. Wilkie, Anne Goriely

    Được phát hành 2023
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    Artigo
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  3. 3
    The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

    The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders Bằng Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M. Elbendary, Jerry Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An‐Sofie Schoonjans, Matthias De Wachter, Ignacio Delgado Alvarez, Ana Felipe‐Rucián, Nourelhoda A. Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P. Prabhu, Klaske D. Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D’Arco, Emma Wakeling, Wendy D. Jones, Eleanor Hay, Sanjay Bhate, Thomas S. Jacques, David M. Mirsky, Matthew T. Whitehead, Maha S. Zaki, Tipu Sultan, Pasquale Striano, Anna Jansen, Maarten H. Lequin, Linda S. de Vries, Mariasavina Severino, Andrew C. Edmondson, Lara Menzies, Philippe M. Campeau, Henry Houlden, Amy McTague, Stéphanie Efthymiou, Kshitij Mankad

    Được phát hành 2024
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    Artigo
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  4. 4
    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

    The impact of inversions across 33,924 families with rare disease from a national genome sequencing project Bằng Alistair T. Pagnamenta, Jing Yu, Susan Walker, Alexandra Noble, Jenny Lord, Prasun Dutta, Mona Hashim, Carlos Camps, Hannah Green, Smrithi Devaiah, Lina Nashef, Jason Parr, Carl Fratter, Rana Hussein, Sarah Lindsay, Fiona Lalloo, Benito Banos‐Pinero, David M. Evans, Lucy Mallin, Adrian J. Waite, Julie Evans, Andrew G. Newman, Zoe Allen, Cristina Perez‐Becerril, Gavin Ryan, Rachel Hart, John‐Stephen Taylor, Tina Bedenham, Emma Clement, Ed Blair, Eleanor Hay, Francesca Forzano, Jenny Higgs, Natalie Canham, Anirban Majumdar, Meriel McEntagart, Nayana Lahiri, Helen Stewart, Sarah Smithson, Eduardo Calpena, Adam Jackson, Siddharth Banka, Hannah Titheradge, Ruth McGowan, Julia Rankin, Charles Shaw‐Smith, D. Gareth Evans, George J. Burghel, Miriam J. Smith, Emily E. Anderson, Rajesh Madhu, Helen V. Firth, Sian Ellard, Paul Brennan, Claire Anderson, Doug Taupin, Mark T. Rogers, Jackie A. Cook, Miranda Durkie, James E. East, Darren Fowler, Louise C. Wilson, Rebecca Igbokwe, Alice Gardham, Ian Tomlinson, Diana Baralle, Holm H. Uhlig, Jenny C. Taylor

    Được phát hành 2024
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    Artigo
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  5. 5
    Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

    Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders Bằng Julie A. Jurgens, Brenda J. Barry, Wai‐Man Chan, Sarah MacKinnon, Mary C. Whitman, Paola M. Matos Ruiz, Brandon M. Pratt, Eleina England, Lynn Pais, Gabrielle Lemire, Emily Groopman, Carmen Glaze, Kathryn A. Russell, Moriel Singer‐Berk, Silvio Alessandro Di Gioia, Arthur S. Lee, Caroline Andrews, Sherin Shaaban, Megan M. Wirth, Sarah Bekele, Melissa Toffoloni, Victoria R. Bradford, Emma E. Foster, Lindsay Berube, Cristina Rivera-Quiles, Fiona M. Mensching, Alba Sanchis-Juan, Jack Fu, Isaac Wong, Xuefang Zhao, Michael W. Wilson, Ben Weisburd, Monkol Lek, Hugo Hernán Abarca-Barriga, Christiane Al‐Haddad, Jeffrey Berman, Erick D. Bothun, Jenina Capasso, Oscar F. Chacón‐Camacho, Lan Chang, Stephen P. Christiansen, Maria Laura Ciccarelli, Monique Cordonnier, Gerald F. Cox, Cynthia J. Curry, Linda R. Dagi, Thomas Lee Dahm, Karen L. David, Bradley V. Davitt, Teresa de Berardinis, Joseph L. Demer, Julie Désir, Fabiana D’Esposito, Arlene V. Drack, Eric Eggenberger, James E. Elder, Alexandra T. Elliott, K. David Epley, Hagit Baris Feldman, Carlos R. Ferreira, Maree Flaherty, Anne B. Fulton, Christina Gerth‐Kahlert, Irène Gottlob, Stephen Grill, Dorothy Halliday, Frank Hanisch, Eleanor Hay, Gena Heidary, C. L. Holder, Jonathan C. Horton, Alessandro Iannaccone, Sherwin J. Isenberg, Suzanne C. Johnston, Alon Kahana, James A. Katowitz, Melanie Kazlas, Natalie C. Kerr, Virginia Kimonis, Melissa W. Ko, Feray Koc, Dorte Ancher Larsen, Guillermo Lay‐Son, Danielle Ledoux, Alex V. Levin, Ronald Levy, Christopher J. Lyons, David A. Mackey, Adriano Magli, Iason S. Mantagos, Candice Marti, Isabelle Maystadt, Fiona McKenzie, Manoj P. Menezes, Claudia N. Mikail, David T. Miller, Kathryn B. Miller, Monte D. Mills, Kaori Miyana, Hans Ulrik Møller

    Được phát hành 2024
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    Artigo
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