Zobrazeno 1 - 10
of 401
pro vyhledávání: '"McMillan Hugh J"'
Autor:
McMillan Hugh J, Worthylake Thea, Schwartzentruber Jeremy, Gottlieb Chloe C, Lawrence Sarah E, MacKenzie Alex, Beaulieu Chandree L, Mooyer Petra A W, Wanders Ronald J A, Majewski Jacek, Bulman Dennis E, Geraghty Michael T, Ferdinandusse Sacha, Boycott Kym M
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 90 (2012)
Abstract Background D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of age. Among patients w
Externí odkaz:
https://doaj.org/article/35d3ec0c604b410e8f3bdf0a9f806ff4
Autor:
Groh, William J., Bhakta, Deepak, Tomaselli, Gordon F., Aleong, Ryan G., Teixeira, Ricardo Alkmim, Amato, Anthony, Asirvatham, Samuel J., Cha, Yong-Mei, Corrado, Domenico, Duboc, Denis, Goldberger, Zachary D., Horie, Minoru, Hornyak, Joseph E., Jefferies, John Lynn, Kääb, Stefan, Kalman, Jonathan M., Kertesz, Naomi J., Lakdawala, Neal K., Lambiase, Pier D., Lubitz, Steven A., McMillan, Hugh J., McNally, Elizabeth M., Milone, Margherita, Namboodiri, Narayanan, Nazarian, Saman, Patton, Kristen K., Russo, Vincenzo, Sacher, Frederic, Santangeli, Pasquale, Shen, Win-Kuang, Sobral Filho, Dario C., Stambler, Bruce S., Stöllberger, Claudia, Wahbi, Karim, Wehrens, Xander H.T., Weiner, Menachem Mendel, Wheeler, Matthew T., Zeppenfeld, Katja
Publikováno v:
In Heart Rhythm October 2022 19(10):e61-e120
Autor:
Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Maggi, Lorenzo, Baranello, Giovanni, Flanigan, Kevin M., Kuntz, Nancy L., Manzur, Adnan Y., Darras, Basil T., Kang, Peter, Mah, Jean K., Mongini, Tiziana, Ricci, Federica, Morrison, Leslie, Krzesniak-Swinarska, Monika, von der Hagen, Maja, Finkel, Richard S., Kumar, Ashutosh, Wicklund, Matthew, McDonald, Craig M., Henricson, Erik K., Schara-Schmidt, Ulrike, Wilichowski, Ekkehard, Barohn, Richard J., Statland, Jeffrey, Kirschner, Janbernd, Vita, Giuseppe, Vita, Gian Luca, Howard, James F., Jr., Hughes, Imelda, McMillan, Hugh J., Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun, Campbell, Craig, McColl, Elaine, McDermott, Michael P., Martens, William B., Guglieri, Michela, Griggs, Robert C.
Publikováno v:
In Neuromuscular Disorders November 2021 31(11):1161-1168
Autor:
Landfeldt, Erik, Thompson, Rachel, Sejersen, Thomas, McMillan, Hugh J., Kirschner, Janbernd, Lochmüller, Hanns
Publikováno v:
European Journal of Epidemiology, 2020 Jan 01. 35(7), 643-653.
Externí odkaz:
https://www.jstor.org/stable/48728909
Autor:
Freeman, Emily, Langlois, Stéphanie, Leyba, Marcos F., Ammar, Tarek, Léger, Zacharie, McMillan, Hugh J., Renaud, Jean-Marc, Jasmin, Bernard J., Cowan, Kyle N.
Publikováno v:
Skeletal Muscle; 4/26/2024, Vol. 14 Issue 1, p1-17, 17p
Autor:
Curry, Brittany, Buttle, Sarah, McMillan, Hugh J., Webster, Richard, Reddy, Deepti, Karir, Aneesh, Spence, Stewart, Mineyko, Aleksandra, Writer, Hilary, MacLean, Heather, Pohl, Daniela
Publikováno v:
The Canadian Journal of Neurological Sciences; March 2024, Vol. 51 Issue: 2 p196-202, 7p
Autor:
Groulx-Boivin, Emilie, Osman, Homira, Chakraborty, Pranesh, Lintern, Stacey, Oskoui, Maryam, Selby, Kathryn, Van Caeseele, Paul, Wyatt, Alexandra, McMillan, Hugh J.
Publikováno v:
The Canadian Journal of Neurological Sciences; March 2024, Vol. 51 Issue: 2 p203-209, 7p
Autor:
Phung, Kim, McAdam, Laura, Ma, Jinhui, McMillan, Hugh J, Jackowski, Stefan, Scharke, Maya, Matzinger, Mary-Ann, Shenouda, Nazih, Koujok, Khaldoun, Jaremko, Jacob L, Wilson, Nagwa, Walker, Scott, Hartigan, Colleen, Khan, Nasrin, Page, Marika, Robinson, Marie-Eve, Saleh, David S, Smit, Kevin, Rauch, Frank, Siminoski, Kerry
Publikováno v:
Journal of Clinical Endocrinology & Metabolism; Feb2024, Vol. 109 Issue 2, p536-548, 13p
Autor:
Leduc‐Pessah, Heather, White‐Brown, Alexandre, Miller, Elka, McMillan, Hugh J., Boycott, Kym M.
Publikováno v:
American Journal of Medical Genetics. Part A; Dec2023, Vol. 191 Issue 12, p2878-2883, 6p
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