Treffer 1 - 20 von 40 für Suche 'WALSH, JOHN FRANCES', Suchdauer: 1,45s Treffer weiter einschränken
  1. 1
  2. 2
  3. 3
  4. 4
  5. 5
  6. 6
  7. 7

    Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study von Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Smith, Katherine R, McDonagh, Ellen M, Polychronopoulos, Dimitris, Chan, Georgia, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, Morris, Huw, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Twiss, Philip, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Wilson, Gill, Ellard, Sian, Temple, I Karen, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Chinnery, Patrick F, Rendon, Augusto, Eberle, Michael A, Taft, Ryan J, Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Hamblin, Angela, Holman, James, Hubbard, Tim J.P., Jones, Louise J., Kayikci, Melis, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Williams, Eleanor, Zarowiecki, Magdalena

    Veröffentlicht in Lancet neurology

    Volltext
    Artikel
  8. 8
  9. 9
  10. 10
  11. 11

    Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort von Braddon, Fiona, Downward, Lewis, Coward, Richard J, Griffin, Sian, Hall, Matt, Karet Frankl, Fiona, Kerecuk, Larissa, Pinney, Jenny, Sayer, John A, Waters, Aoife, Bockenhauer, Detlef, Gale, Daniel P, Agbonmwandolor, Joy, Ahmad, Zubaidah, Asgari, Ellie, Ayers, Amanda, Barratt, Alison, Barratt, Jonathan, Benyon, Sarah, Bhandari, Sunil, Bond, Sally, Bramham, Kate, Branson, Angela, Byrne, Conor, Campbell, Gary, Capell, Alys, Cathcart, Tracy, Cheung, Chee Kay, Chick, Katy-Jane, Chrysochou, Tina, Clayton, Christopher, Cook, Wendy, Coward, Richard J, Drayson, Mark, Evans, Dawn, Flinter, Frances, Gale, Daniel P, Gallagher, Hugh, Game, David, Gavrila, Madita, Gilchrist, Mark, Goldsmith, Christopher, Gray, Barry, Griffith, Megan, Gupta, Sanjana, Hillman, Kate, Htet, Zay, Huish, Sharon, Hull, Richard, Hunter, Karl, Inston, Nick, Jayne, David, Jenkins, Alison, Kamesh, Lavanya, Kanigicherla, Durga, Karet Frankl, Fiona, Kaur, Amrit, King, Garry, King, Grant, Kislowska, Ewa, Kokocinska, Maria, Lawless, Laura, Mabillard, Holly, Mahdi, Khalid, Masoud, Sherry, Mayfair, Jake, Meyrick, Simon, Moochhala, Shabbir, Morgan, Ann, Muhammad, Fawad, Murray, Shona, Osmaston, Kate, Padmanabhan, Neal, Pattison, James, Persu, Alexandre, Petchey, William G, Post, Frank, Sandford, Richard, Sarween, Nadia, Sayer, John A, Sebire, Neil, Selvaskandan, Haresh, Sharma, Asheesh, Sheerin, Neil, Shetty, Harish, Simms, Roslyn, Smith, Kerry, Swift, Pauline, Szklarzewicz, Justyna, Tam, Fred, Tan, Kay, Tischkowitz, Marc, Tse, Yincent, Tyerman, Kay, Usher, Miranda, Wechalekar, Ashutosh, Welsh, Gavin I, West, Nicol, Williams, Angharad, Wilson, Patricia D

    Veröffentlicht in The Lancet (British edition)

    Volltext
    Artikel
  12. 12
  13. 13
  14. 14

    An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids von Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Perlman, Seth, Martin, Nicole, Brault, Jennifer, Gahl, William A., Alejandro, Mercedes E., Dai, Hongzheng, Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Potocki, Lorraine, Scott, Daryl A., Eng, Christine M., Deardorff, Matthew, Hassey, Kelly, Sullivan, Kathleen, Tan, Queenie K.-G., Beggs, Alan H., Berry, Gerard T., Cooper, Cynthia M., Pallais, J. Carl, Rodan, Lance H., Kelley, Emily G., Morava, Eva, Forghani, Irman, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Tekin, Mustafa, Thorson, Willa, Findley, Laurie C., Krasnewich, Donna M., Manolio, Teri A., Goldrich, Madison P., Draper, David D., Nath, Avi, Pusey, Barbara N., Toro, Camilo, Baker, Eva, Gochuico, Bernadette, Mosbrook-Davis, Deborah, Rossignol, Francis, Adam, Margaret, Amendola, Laura, Cunningham, Michael, Jarvik, Gail P., Jarvik, Jeffrey, Lam, Christina, Raskind, Wendy, Sybert, Virginia, Ashley, Euan A., Coakley, Terra R., Hom, Jason, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, Ruzhnikov, Maura, Tabor, Holly K., Tucker, Brianna M., Zastrow, Diane B., Byrd, William E., Dell’Angelica, Esteban C., Douine, Emilie D., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Parker, Neil H., Sinsheimer, Janet S., Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Pace, Laura, Marth, Gabor, Viskochil, Dave, Bayrak-Toydemir, Pinar, Duncan, Laura, Robertson, Amy K., Solem, Emily, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Wanders, Ronald J.A., Vaz, Frédéric M.

    Veröffentlicht in Genetics in medicine

    Volltext
    Artikel
  15. 15
  16. 16
  17. 17

    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations von Kurata, Harley T., Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Bolkier, Yoav, Dickson, Patricia, Donald, Kirsten A., Eliyahu, Aviva, Emrick, Lisa, Odent, Sylvie, Ortiz-Gonzalez, Xilma, Rosenfeld, Jill A., Skraban, Cara, Alejandro, Mercedes E., Azamian, Mahshid S., Chao, Hsiao-Tuan, Dai, Hongzheng, Dhar, Shweta U., Karaviti, Lefkothea, Lee, Brendan H., Rosenfeld, Jill A., Scott, Daryl A., Wangler, Michael F., Eng, Christine M., Sullivan, Kathleen, Goldstein, David B., McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Beggs, Alan H., Cobban, Laurel A., Cooper, Cynthia M., Fieg, Elizabeth L., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Stoler, Joan M., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Bivona, Stephanie, Isasi, Rosario, Levitt, Roy, Tekin, Mustafa, Thorson, Willa, Eckstein, David J., Mamounas, Laura A., D’Souza, Precilla, Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Nath, Avi, Baker, Eva, Power, Bradley, Mosbrook-Davis, Deborah, Rossignol, Francis, Yousef, Muhammad, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Jarvik, Gail P., Jarvik, Jeffrey, Mefford, Heather, Merritt, J. Lawrence, Raskind, Wendy, Sybert, Virginia, Wener, Mark, Wenger, Tara, Fisher, Paul G., Reuter, Chloe M., Smith, Kevin S., Zastrow, Diane B., Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Fogel, Brent L., Krakow, Deborah, Lee, Hane, Palmer, Christina G.S., Papp, Jeanette C., Woods, Jeremy D., Andrews, Ashley, Pace, Laura, Viskochil, Dave, Bican, Anna, Kennedy, Jennifer, Cogan, Joy D., Cole, F. Sessions, Kiley, Dana, Sisco, Kathy, Schedl, Timothy, Solnica-Krezel, Lilianna, Pitt, Geoffrey S.

    Veröffentlicht in Genetics in medicine

    Volltext
    Artikel
  18. 18

    One is the loneliest number: genotypic matchmaking using the electronic health record von Koziura, Mary E., Phillips, John A., Peterson, Josh F., Newman, John H., Bastarache, Lisa, Bacino, Carlos A., Balasubramanyam, Ashok, Clark, Gary D., Dhar, Shweta U., Jamal, Fariha, Lalani, Seema R., Lewis, Richard A., Orengo, James P., Vogel, Tiphanie P., Wangler, Michael F., Goldstein, David B., Cope, Heidi, Jiang, Yong-hui, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Fieg, Elizabeth L., Korrick, Susan, Krier, Joel B., Maas, Richard L., Pallais, J. Carl, Rodan, Lance H., Silverman, Edwin K., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., Bick, David P., Birch, Camille L., Boone, Braden E., Levy, Shawn E., Worthey, Elizabeth A., Oglesbee, Devin, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, McCauley, Jacob, Sacco, Ralph, Thorson, Willa, Colley, Heather A., Krasnewich, Donna M., Mamounas, Laura A., Rowley, Robb K., Tamburro, Cecelia P., Bonnenmann, Carsten, Estwick, Tyra, Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Novacic, Donna, Pusey, Barbara N., Sharma, Prashant, Toro, Camilo, Wahl, Colleen E., Yu, Guoyun, Baker, Eva, Adams, David R., Malicdan, May Christine V., Yang, John, Koeller, David M., Kyle, Jennifer E., Webb-Robertson, Bobbie-Jo M., Bernstein, Jonathan A., Bonner, Devon, Fernandez, Liliana, Huang, Yong, Kohler, Jennefer N., Majcherska, Marta M., Reuter, Chloe M., Sampson, Jacinda B., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Fresard, Laure, Bejerano, Gill, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Martin, Martin G., Woods, Jeremy D., Yoon, Amanda J., Botto, Lorenzo, Andrews, Ashley, Carey, John, Quinlan, Aaron, Bayrak-Toydemir, Pinar, Postlethwait, John H., Shakachite, Lisa, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Solnica-Krezel, Lilianna

    Veröffentlicht in Genetics in medicine

    Volltext
    Artikel
  19. 19
  20. 20

    Factors impacting time to ileostomy closure after anterior resection: the UK closure of ileostomy timing cohort study (CLOSE‐IT) von Chambers, Adam, Stearns, Adam, Walsh, Adam, Rankin, Adeline, Khan, Aftab, Engledow, Alec, Newman, Alex, Wilkins, Alex, Curtis, Alexander, Jones, Alexander, Groves, Alice, Bilkhu, Amarvir, Alabi, Andrew, Kosti, Angeliki, Soares, A. S., Oglesby, Arabis, Silva, Arnaldo Neves Santos, Pannu, Arslan, Stubbs, Ben, Bowman, Christopher, Rao, Christopher, Halkias, Constantine, Glancy, Damian, Anderson, David, Bowden, David, Zosimas, Dimitrios, Waugh, Dominic, Monaghan, Eimear, Crossley, Eleanor, Barron, Emma, Kastanias, Epameinondas, Mosley, Frances, Ugwu, Francis, Faulkner, Gemma, Gossedge, Gemma, Williams, Gethin, Taylor, Gregory, Copley, Hannah, Naheswaran, Haritharan, Black, Helen, Ferguson, Henry, Jones, Huw, Lord, Ian, Reece, Ieuan, Shabbir, Jamshed, Sagar, Jayesh, Allison, Joanna, Hilton, Joanna, Lund, Jon, Fletcher, Jordan, Bailey, Joseph, Huang, Joseph, John, Joseph, Roy, Joyti, Sahnan, Kapil, Cross, Katie, Siggens, Katie, Keogh, Kenneth, Hureibi, Khalid, Hashmi, Khawar, Muirhead, Laura, Kennedy, Lauren, Sheahlin, Lee, Reza, Lilian, Pippard, Lucy, Dickerson, Luke, Stevenson, Lynn, Chan, Marcus, Wiggans, Matt, Feretis, Michael, Thornton, Michael, Williamson, Mike, Rabie, Mohamed, Fakhrul‐Aldeen, Mohammed, Francis, Nader, Curtis, Nathan, Fearnhead, Nicola, Symons, Nicholas, Nanjappa, Nikhil, Husnoo, Nilofer, Warren, Oliver, James, Osian, Orchard, Philippa, Falconer, Rachel, Thomas, Rachel, Kushwaha, Rajeed, Maahi, Rajin, Fallaize, Rebecca, Kelleher, Rory, Doran, Sophie, Shepherd, Sophie, Dilke, Stella, Chandler, Susan, Hussain, Tasadooq, Roe, Thomas, Datta, Vivek, Kenworthy, William, Ibrahim, Yousef, Thackray, Ysabelle, Karar, Shoura

    Veröffentlicht in Colorectal disease

    Volltext
    Artikel