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of 6
pro vyhledávání: '"Martha Balicki"'
IntroductionThe Royal College of Physicians and Surgeons of Canada and the American Accreditation Council for Graduate Medical Education require resident skills in Evidence-Based Medicine and participation in research activities. Our first-year pedia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c936ccbf6ce4ccd570519adf75899ed
https://doi.org/10.1101/2022.08.07.22277912
https://doi.org/10.1101/2022.08.07.22277912
Autor:
Bruce B., Forster, Anique de, Bruin, Abigail, Arnold, Rose, Hatala, Jeroen van, Merrienboer, Kathryn, Darras, Rebecca, Spouge, Savvas, Nicolaou, Kamal, Moghrabi, Majid, Doroudi, Juvel, Lee, Bruce, Forster, Farnaz, Javadian, Andy, Jiang, Nicole, Ng, Shirley, Tse, Jeffrey, Hu, James, Nugent, Jeff, Hu, Anne, Worthington, Claudia, Krebs, Vishesh, Oberoi, Farshad, Hosseini, Richard, Berish, Josh, Lehr, Matthew, Downer, Luke, Duffley, Phil, Hillier, Kieran, Lacey, Madison, Lewis, Brooke, Turner, Jill, Allison, Cees van der, Vleuten, Jimmie, Leppink, Cassandra, Barber, Saad, Chahine, Meghan, Gipson, Lisa Richardson MD, PhD, Claudianne, Laurin, Marie-Ève, Villeneuve, Camille, Dulude, Jasmine, Chahal, Mitesh, Patel, Shaimaa, Helal, Emaad, Mohammad, Omar, Islam, Aarti, Sayal, Jackie, Gruber, Lukas, Neville, Cathy, Rocke, Brenda, Elias, Hartley, Perlmutter, Darryl, Rolfson, Thomas, Jeffery, Vijay, Daniels, Patrick von, Hauff, Jessie, Thuswaldner, Heather, Lochnan, Paul, Hendry, Robert, Parson, Jacqueline, Ogilvie, Breanna, Chen, Jill, Sangha, Andrea, Ens, Sarah, Payne, Sheila, Harms, Natasha, Snelgrove, Ryann, Kwan, Roger, Chafe, Martha, Balicki, Barr, Darja, Robert, Renaud, Atul, Sharma, Celia, Rodd, Lauren, Friedman, Shannon, Willmott, Marie-Pier, Lirette, Larissa, Shapka, Natalie, Jewitt, Gabriel, Tse, Amy, Zipursky, Lisette, Yorke, Adelle, Atkinson, Michael, Weinstein, Angela, Punnett, Senthujan, Gunaseelan, Danielle, Walker, Natasha, Larocque, Michelle, Gibson, Portia, Tang, Ramy, Boles, Leshawn, Benedict, Joyce, Lui, Roxanne, Wright, Fok Han, Leung, Zachary, Liederman, Ivan, Silver, Rita, Selby, Ryan, Sandarage, Brandon, Tang, Katrina, Dutkiewicz, Stephan, Saad, Jocelyn, Chai, Kristin, Dawson, Vanessa, Kitchin, Iain, McCormick, Barry, Kassen, Aazad, Abbas, Sarah, McClennan, Wasimuddin, Syed, Syed, Ibrahim, Ali, Dergham, Laura, Milne, Jessica, Trier, Patrick, Albers, Brodie, Ritchie, Alexander, Miles, Eleanor, Crawford, Alan, Batt, Brett, Williams, Madison, Brydges, Matthew, Leyenaar, Walter, Tavares, Mélanie, Marceau, Denis, Bouchard, Monique, McLaughlin, Brian, Lee, Landon, James, Paul, Barber, Jennifer, Halasz, Leslie, Truong, Kendra, Raffael, Christine, Phan, Pam, Mathura, Narmin, Kassam, Tracey, Hillier, Jennifer, Croden, Shujiao, Wang, Maryam, Wagner, Valérie, Dory, Patricia, Wade, Beth-Ann, Cummings, Hannah, Smith, Diana, Sanchez-Ramirez, Jasmine, Waslowski, Morag, Paton, Mary, Freymond, Tristan, Brownrigg, Sagar, Patel, Shelby, Olesovsky, Joyce, Nyhof-Young, Adrina, Zhong, Elise, Quint, Tobey, Audcent, Jimin, Lee, Andrea, Guerin, Victoria, Lee-Kim, Karen, Grewal, Theresa, Nowlan-Suart, Sylvie, Bowden, Helen, Dimaras, Asim, Ali, Sadik, Taju, Stephanie, Kletke, Max, Solish, Alanna, Roberts, Samantha, Stasiuk, Alasdair Nazerali, Maitland, Alex, Frolkis, Allison, Michaud, Shannon, Ruzycki, Ahmed, Moussa, Evelyne, Wassef, Thomas, Pennaforte, Michael-Andrew, Assaad, Erin, Peebles, Tara, Mullowney, Sandra, Westcott, Kaif, Pardhan, Alim, Pardhan, Michael, Brown, Nicholas, Cofie, Benjamin, Kwan, Benedetto, Mussari, Pam, Moore, Lynne, Meilleur, Alexandre, Menard, Don, Soboleski, Nancy, Dalgarno, Loni, Desanghere, Anurag, Saxena, Scott J., Adams, Andrew, Volk, Hollis, Lai, Keon, Ma, Jahaan, Ali, Julianna, Deutscher, Jason, Silverman, Chris, Novak, Sandy, Dong, John, Chmelicek, Erica, Dance, Helly, Goez, Lara, Cooke, Janet de, Groot, Lynden, Crowshoe, Parichita, Choudhury, Ulemu, Luhanga, Maria, Aaron, Adam, Webb, Manon, Denis-LeBlanc, Lyne, Pitre, Maud, Mediell, Adjo, David, Salomon, Fotsing, Eric, Dionne, Laura, Tan, Lorraine, Tan, Yihan, Khoo, Ying Pin, Toh, Annelissa, Chin, Lalit, Krishna, Annie, Descôteaux, Alexandre, Berkesse, Marie-Pierre, Codsi, Antoine, Payot, Philippe, Karazivan, Vincent, Dumez, Amélie Du, Pont-Thibodeau, Nathalie, Orr-Gaucher, Melissa, Taguemout, Anne-Sophie, Eymard, Mathieu, Jackson, Clara, Dallaire, Louise, Nicaise, Yipeng, Ge, Ruth, Cull, Guylaine, Séguin, Paul, Bessette, Eve-Reine, Gagné, Sylvie, Houde, Sylvie, Mathieu, Sébastien, Roulier, Geneviève, Petit, Linda, Pinsonneault, Ghislaine, Houde, Gabrielle, Trépanier, Damien, Bélisle, Judy, Truong, Vanessa, Sheng, Priya, Sandhu, Yasamin, Sadeghi, Kevin, Venus, Nadine, Abdullah, Lindsay, Melvin, Wilson, Lam, Hassan, Sibai, Robin, Ralph-Edwards, Michael, Ott, Julie Ann, VanKoughnett, William Bédard, Michel, Véronique, Castonguay, Pierre, Desaulniers, Éric, Piette, Massimiliano, Iseppon, Patrice Chrétien, Raymer, Jean-Michel, Leduc, Ariane, Bergeron, Judith, Lefebvre, Phillip, Surmanowicz, Liam, Rourke, Ron, Damaant, Casey, Goldstein, Tianyue, Wang, Danielle, Thibodeau, Kimberley, MacNeil, Maria, Hubinette, Sandra, Jarvis-Selinger, Sara, Trincao-Batra, Kyung Joon, Mun, Tracy, Pham, Tunde, Gondocz, Allan, McDougall, Leah, Kosyakovsky, Michael, Ruiz, Jonah, Himelfarb, Healey, Shulman, Mark, Bonta, Stephanie, Jiang, Sydney, McQueen, Aidan, McParland, Melanie Hammond, Mobilio, Carol-Anne, Moulton, Keyna, Bracken, Parth, Sharma, Emily, Allison, Kaitlin, Endres, Katina, Zheng, Sarah, Elias, Mimi, Deng, Alexandra, Kobza, Aimee, Li, Veronique, Foley, David, Foley, Grainne, Kearney, Jenny, Johnston, Nigel, Hart, Gerry, Gormley, Irene, Ma, Janeve, Desy, Vicki, Noble, Andrew, Liteplo, Paul, Olszynski, Elaine, Dumoulin, Shane, Arishenkoff, Renee, Dversdal, Gigi, Liu, Brian, Buchanan, Sean, Borle, Susan, Andrew, Cody, Surgin, Omar, Selim, Andrew, Dueck, Catharine, Walsh, Ryan, Brydges, Mahan, Kulasegaram, Allan, Okrainec, Amy, Lu, Julie, Johnstone, Fern, Juster, Kelly, Dore, Helen, Mawdsley, Christen, Rachul, Keevin, Bernstein, Ira, Ripstein, Joanne, Hamilton, Véronique, Phan, Stéphane, Ouellet, Dania, Ramirez, Josée, Sabourin, Isabelle, Perreault, Nicolas, Fernandez, Adam, Pietrobon, Lucia, Chehadé, Alexandra, Beaudry-Richard, Brian, Keller, Michael, Schlossmacher, Nicole, Zaki, Teresa, Cavett, Gayle, Halas, Holly, Caretta-Weyer, Lindsay, Crawford, Sean, Taylor, Damon, Dagnone, Laura, McEwen, Matt, Kushneriuk, Deirdre, Andres, Andrea, Symon, Di Naidu, Naidu, Joshua, LLoyd, Lisa, Thurgur, Miguel, Cortel-LeBlanc, Jeffrey, Landreville, Wenxuan, Wang, Michele, Weir, Kyle, Massey, Gary, Tithecott, Cyrus, Hamadi, Silvio, Ndoja, Charles, Dion, Alexander, McCarton, Brynn, Charron, Marie-Eve, LeBel, Yuding, Wang, Kelly, dore, Edward, Matsumoto, Dana, Russle, Nathan, Wong, Jen, Hoogenes, Bobby, Shayegan, Miranda, Wan, Stewart, Spence, Melissa, Wan, Carly, Schenker, Lindsay, Herzog, Erin, Bearss, Milena, Forte, Michael, Roberts, Ian, Waters, Diana, Toubassi, Stephanie, Smith, Lauren, Griggs, Franco, Rizzuti, Joan, Horton, Aliya, Kassam, Allison, Brown, Marie, Leung, Olivia, Geen, Samantha Woodrow, Mullett, Meirui, Li, Naomi, Mudachi, Hely, Shah, Roxanne, St-Pierre-Alain, Maxime, Couture, Audrey, Désilets, Valerie S., Kim, Allison J., Chen, Anna, Chen, Lauren A., Beck, Adam, Neufeld, Greg, Malin, Laurence, Labine, Maude, Cigna, Ariane, Deneault-Marchand, Karina Salvo, Labelle, Gabriel, Lavoie, Sarah-Émilie, Racine-Hamel, Sophie, Marcoux, Kendra, Martel, Anthony, Seto, William, Kennedy, Mackenzie, Margetts, Mitchell, Rohatensky, Jian, Choo, Sean, Crooks, Nicole, Ertl, Nazia, Sharfuddin, Nathan, Zondervan, Lucas, Streith, Louise, Hufton, Alejandro, Granados, Fernando, Bello, Daniel, Wheeler, Josh, Kariath, Regan, Brownbridge, Amit, Persad, Julia, Radic, Astrid, Bicamumpaka-Shema, Sarah, Zahabi, Marie-Frédéric, Tremblay, Rosario, Rodriguez, Laura Rojas, Rozo, Luka, Pusic, Martin, Pusic, Mark, Baxter, Adam, Dubrowski, Tim, Weber, Krystina, Clarke, Zhujiang, Wang, Robert, Savaglio, Ruth, Simpson, Maurice, DiGiuseppe, Bill, Kapralos, Sarah, Frangou, Kristen, Edwards, Natalie, Garrett, Joshua, Frost, Megan, Deck, Kiran, Rabheru, Peter, Hedlin, Marla, Davidson, Amélie, Frégeau, Alexis, Cournoyer, Nathalie, Soucy, David, Fortier, Richard, Fleet, Minisha, Suri, Deborah, Kopansky-Giles, Silvano, Mior, Lianne, Jeffs, Kari, White, Douglas, Campbell, Jackson, Blonde, Andrew, Atkins, Susan, Munro, Cyril, Boulila, Élise, Girouard-Chantal, Matthew, Lassman, Christophe, Gendron, Timothy, Dubé, Elise, Girourard-Chantal, Marcel, D'Eon, Get, Lombamo, Jelyssa, Luc, Natasha Hubbard, Murdoch, Poppy, Lowe, Timothy, Weber, Alvaro, Quevedo, Chris, Winstead-Derlega, Stefanie, Sebok-Syer, Michelle, Bach, Elizabeth, Trinh, Natalia, Trounce, Milana, Boukhman, Camille Pelletier, Vernooy, Clément, Cohé, Kira, Abelsohn, James, Owen, Cathy, Fournier, David, Rojas, Lisa, Richardson, Cynthia, Whitehead, Sadie, King, Ahmed, Maherzi, Samuel, Blain, Claudie, Paul, Laurianne, Petiquay, Claudia, Petiquay, Sharon, Yeung, Amy, Bombay, Chad, Walker, Jeff, Denis, Debbie, Martin, Paul, Sylvestre, Heather, Castleden, Ashton, Cox, Joanne, Rodger, Devon, Stride, Teresa, Chan, Valerie, Hladky, Amelia, Lamontagne, Qi, Li, Chantal, Phillips, Anita, Balakrishna, Lisa, Robinson, Christine, Seabrook, Emily (Tu Nhi), Nham, James, Watterson, Anahita, Malvea, Francis, Diaz, Anita, Ens, Sasha, Thiem, Amanda, Condon, Filippos, Papadopoulos, Danielle, Portnoy, Martin, Moran, Hanna, Faghfoury, Maureen, Thivierge-Southidara, Mathieu, Courchesne, Steven, Bonneau, Michel, Carrier, Margaret, Henri, Graham, Kasper, Saly, Halawa, Shirley Xue, Jiang, Caterina, Masino, Michelle, Turcotte, Chloé, Thabet, Melissa, Phuong, Glara, Rhee, Phillip, Tsang, Olwyn, Foley, Ryan, Gotfrit, Laura, Zuccaro, Vladimir, Contreras-Dominguez, Robert, Bell, Safaa El, Bialy, Mohammad, Jay, John, Leddy, Christopher, Ramnanan, Yamilee, Hebert, Dalia limor, Karol, Neraj, Manhas, Rebecca, Correia, Lindsay, Klea, Graham, Campbell, Andrew, Costa, Linda, Wang, Stephanie, Dizon, Amel, Arnaout, Daniel, Andruchow, Shawn, Dowling, Kevin, Lonergan, Tom, Rich, Catherine, Patocka, Chantal, D'aoust-Bernard, Anne-Marie, Friesen, David, Adjo, Cassandra, Préfontaine, Chantal, Lemire, Hélène, Corriveau, Marie-Josée, April, Isabelle, Gaboury, Kristen, Bishop, Hasan, Hawilo, Ravi, Taneja, Mark, Goldszmidt, Lemay, Genevieve, Christopher, Zou, Meghan, McConnell, Patrick, Antonacci, Ann, Graillon, Joanie, Poirier, Kathleen, Ouellet, Valérie, Désilets, Marianne, Xhignesse, Christina, St-Onge, Ayelet, Kuper, Jacqueline, Hui, Keith, Wycliffe-Jones, Jocelyn, Lockyer, Craig, Campbell, Shanna, DiMillo, Debra, Sibbald, Diana C, Sanchez-Ramirez, Dori, Rainey, Jean-Sébastien, Renaud, Martine, Bourget, Kevin, Eva, Alexis Salvador, Loye, Matthew, Homer, Robert, Gagnon, Christian, Bourdy, Geneviève, Grégoire, Boris, Zevin, David, Barber, Robyn, Houlden, Eleftherios, Soleas, Lynn, Roberts, Richard van, Wylick, Katie, Evans, Stephen, Miller, Diane, MacKenzie, Gail, Creaser, Kim, Sponagle, Dana, Turcotte, Jessica, Clendenan, Margaret, Rauliuk, Wendy A, Stewart, Ellen M., Friedman, Larry, Laufman, Joan, Friedland, Anne, Gill, Vandana, Shah, Camila, Velez, Deborah, Friedman, Nicole-Ann, Shery, Rebecca, Maftoul, Vincent, Jobin, Bernard, Charlin, Annie, Descoteaux, Caroline, Lebel, Marc, Rouleau, Anouck, Sénécal, Tin, Ngo-Minh, Gilles, Brousseau, Michel, Leblanc, Fabien, Vadnais, Melissa, Nutik, Risa, Freeman, Nicole, Woods, Azadeh, Moaveni, Ruby, Alvi, Jared, Gleberzon, Michael, Lee-Poy, Sietske, Speerstra, Daniel, Livy, Cara, Dosman, Debbi, Andrews, Andrea Davila, Cervantes, Qi, Guo, Sheila, Gallagher, Sabrina, Eliason, Carol, Hodgson, Victoria-Marie, Cusson, Gladys, Bruyninx, Stefan de, Laplante, Fong, Chan, Tony, Seet, Janice, Yeung, Sharon, Leung, Reanne, Li, Justine, Saran, Amanda, Stalwick, Regina, Taylor-Gjevre, Shayna, Kulman-Lipsey, Joanne Leo, Leo, Samantha, Yang, Arshia, Javidan, Andrea, Levinson, Leslie, Nickell, Colleen, Brady, Michelle, Fischer, Shelley, Ross, Alexandra, Aquilina, Rob, Kiddell, Deena, Hamza, Theresa van der, Goes, Cheryl, Poth, Shirley, Schipper, Paige, Blumer, Michael, Claydon, Katey, Murray, Sabine, Schneidewind, Philip, Bintaro, Hadas, Haft, Sarah, Tajani, Bob, Bluman, Karen, MacDonell, Brenna, Lynn, Kathryn, Young, Bianca, Boicu, Oron, Frenkel, Richard, Pittini, Yuxin, Tu, Glenys, Babcock, Mariela, Ruetalo, Fernanda, Claudio, Christine, Polimeni, Paula, Rowland, Suzan, Schneeweiss, Shiphra, Ginsburg, Francesca, Luconi, Elizabeth, Wooster, Meron, Teferra, Andrea, Quaiattini, Clare, Cook, Lisa, Kokanie, Julie, Colquhoun, Susan, Cauti, Heather, Gaunt, Kari, Osmar, Joanne, Goldman, Brian, Wong, Lisha, Lo, Anne, Smeraglio, Takaia, Larsen, Kevin, Busche, Mike, Paget, Wayne, Woloschuk, Dominique, Piquette, Briseida, Mema, Christie, Lee, Alberto, Goffi, Debaroti Mullick, Borschel, Umberin, Najeeb, Danny, Panisko, Giovanna, Sirianni, Susan, Glover-Takahashi, Lise, Cusson, Suzanne, Laurin, Judith, Peranson, Helen, Batty, Ancy, Jacob, Abbas, Ghavam-Rassoul, Jana, Lazor, Jennifer, Bell, Lori, Innes, Eleanor, Good, Pete, Tonseth, Anthony, Sturgeon, Angelina, Marinkovic, Alasdair, Nazerali-Maitland, Jennifer, Railer, Denise, Stockley, Leslie, Flynn, Amber, Hastings-Truelove, Alicia, Hussain, Cary, Cuncic, James, Tessaro, Harp, Nagi, Allison, Nakanishi, Aman, Nijjar, Douglas, Myhre, Rebecca, Malhi, Jodie, Ornstein, Molly, Whalen-Browne, Sonya, Lee, Sudha, Koppula, Stephen, Mintsioulis, Maureen, Topps, Sarah, Jacobs, Jennifer, Wyman, Ethan, Cohen, Anne, Wideman, Andrea, David, Mira, Shuman, Heather, Zimcik, Marcus, Law, Jennifer, McCabe, Stuart, Murdoch, Mandy, Esliger, Lara, Hazelton, Heather, Milliken, Kim, Good, Aditya, Nidumolu, Kuo-Hsing, Kuo, Joyce, Leo, David, Topps, Marise, Lombard, King, Keely, Frances, Kilbertus, Susan, Robinson, Sayra, Cristancho, Sarah, Burm, Stella, Ng, Lori, Nemoy, Filomena, Meffe, Linda, Moscovitch, Catherine, Bishop, Sabina, Fella, Nirmala, Chandrasekaran, Sylvie, Grosjean, Luc, Bonneville, Richard, Waldolf, Isaac, Nahon-Serfaty, Julianna, Caon, Stuart, McAdam, Tasha, Kulai, Babar, Haroon, Nicholas, Fairbridge, Vernon, Curran, Diana, Deacon, Karen, Sauve, Alison, Greig, Sue, Murphy, Riley, Louie, Joseph, Anthony, Toi, Harris, Erik, Malmberg, Katie, Marchington, Warren, Lewin, Susan, Love, Lisa, Bonang, Jacqueline, Torti, Ali, Inayat, Hamza, Inayat, Wael, Haddara, Nabil, Sultan, Emmanuelle, Careau, Marie-Claire, Bérubé, Émélie, Provost, Julien, Poitras, Judith, Boileau, Maria, Cherba, Tamara, Vesel, Grace, Wang, Maria, Blanco, Emma, Ernst, Leah, Walker, Rebecca, Howse, Rebekah, Eatmon, Yan, Chow, Kate, Campbell, Claudia, Hopkins, Andrea, Keesey, Isabelle, Burnier, Marie Hélène, Chomienne, Diane, Bouchard-Lamothe, Andrea, Davila-Cervantes, Marghalara, Rashid, Karen, Cook, Chelsea, Jalloh, Roger, Berrington, Nina, Condo, Felicien, Rubayita, Ian, Whetter, Jill, Konkin, Daniel, Lemoine, Darren, Nichols, Ute, Hauck, Amanda, Bell, Karl, Stobbe, Larry W., Chambers, Vesa, Basha, Jessie, Brazier, Delia, Dragomir, Meghan, Glibbery, Hannah, Kearney, Alison, Knapp, Daniel, Levin, Dyon, Tucker, Seddiq, Weera, Jorin, Lukings, Karen, Pinder, Jason, Ford, Charles, Penner, Jean, Ouellet, Elise, Martel, Sébastien, Turgeon, Alexandra, Dubé-Louber, Julie, Fortin, Raymond, Thibodeau, Mathieu, Pelletier, Diane, Comeau, Claudine, Parent, Angela, Coderre-Ball, Jessica, Baumhour, Iris, Ko, Vittoria, Zubani, Audrey, L'Espérance, Taryn, Taylor
Publikováno v:
Canadian Medical Education Journal
Background/Purpose: Virtual dissection is performed with CT scans on near life-size touchscreens, which function like hospital radiology workstations. Students work together to manipulate the data and perform their dissection. The purpose of this stu
Autor:
Cristina Dias, Arndt Rolfs, Saadet Mercimek-Mahmutoglu, Juliette Hukin, Martha Balicki, Rosemarie Rupps
Publikováno v:
Journal of Child Neurology. 28:1500-1504
Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative phenotypes encompassing spastic paraplegia with or
Autor:
Simon P. Brooks, Ruth Riise, Alison J. Hardcastle, Margherita Coccia, Naheed Kanuga, Harris A. Yee, Martha Balicki, Peter J. Francis, Eamonn R. Maher, Teresia Wangensteen, Katja Christodoulou, Anand Saggar, Anthony T. Moore, Victoria Murday, Tom R. Webb, Isabelle Russell-Eggitt, Izabella O. Wozniak, Soo-Mi Park
Publikováno v:
Human Molecular Genetics
Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Protein truncation mutations in a novel gene (NHS) have been identifie
Autor:
Enrico Bertini, Carmel Toomes, Ken K. Nischal, Maha M. Eid, Imelda Hughes, John Tolmie, Yanick J. Crow, J.F. Talbot, William Halliday, A. Klusmann‐Koy, M.S. van der Knaap, B H Browne, Manju A. Kurian, Robert Surtees, Martha Balicki, David Chitayat, Nick Bishop, Gillian I. Rice, N.N. Tehrani, Ghada M H Abdel-Salam, W.K. Chong, Peter Baxter, J. B P Stephenson, Tracy A Briggs
Publikováno v:
Briggs, T A, Abdel-Salam, G, Balicki, M, Baxter, P, Bertini, E, Bishop, N, Browne, B H, Chitayat, D, Chong, W K, Eid, M M, Halliday, W, Hughes, I, Klusmann-Koy, A, Kurian, M, Nischal, K K, Rice, G I, Stephenson, J B P, Surtees, R, Talbot, J F, Tehrani, N N, Tolmie, J L, Toomes, C, van der Knaap, M S & Crow, Y J 2008, ' Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) ', American Journal of Medical Genetics Part A, vol. 146A, no. 2, pp. 182-190 . https://doi.org/10.1002/ajmg.a.32080
American journal of medical genetics. Part A, 146A(2), 182-190. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 146A(2), 182-190. Wiley-Liss Inc.
American journal of medical genetics. Part A, 146A(2), 182-190. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 146A(2), 182-190. Wiley-Liss Inc.
Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d66ec770c2fa187bed2a8e796de15e
https://research.vumc.nl/en/publications/7debf067-ea50-46a5-9a4a-a735df1f86ac
https://research.vumc.nl/en/publications/7debf067-ea50-46a5-9a4a-a735df1f86ac
Autor:
Katherine Selby, Patrice Eydoux, Harinder Gill, Mena Abdelsayed, Colin J. D. Ross, Martha Balicki, Bryan Sayson, Hilary Vallance, Clara D.M. van Karnebeek, Glenda Hendson, Chieko Chijiwa, Suzanne M E Lewis, X. Cynthia Ye, Wyeth W. Wasserman, Peter C. Ruben, Lin-Hua Zhang
Publikováno v:
Journal of Medical Genetics. 52:A3.2-A4
Introduction Mutations in the family of SCN genes encoding sodium channels are responsible for several disorders affecting the central and peripheral nervous systems and muscle. Disease arising from sodium channel mutants range from the relatively be