학술논문
'학술논문'
에서 검색결과 78건 | 목록
1~10
Academic Journal
Yu, David; Miller, Corey; Feng, Yi; Guichard, Audrey; Béziat, Vivien; Bustamante, Jacinta; Pan-Hammarström, Qiang; Zhang, Yu; Rosen, Lindsey; Holland, Steve; Bosticardo, Marita; Kenney, Heather; Castagnoli, Riccardo; Slade, Charlotte; Boztuğ, Kaan; Mahlaoui, Nizar; Latour, Sylvain; Abraham, Roshini; Lougaris, Vassilios; Hauck, Fabian; Sediva, Anna; Atschekzei, Faranaz; Sogkas, Georgios; Poli, M; Slatter, Mary; Palterer, Boaz; Keller, Michael; Pinzon-Charry, Alberto; Sullivan, Anna; Droney, Luke; Suan, Daniel; Wong, Melanie; Kane, Alisa; Hu, Hannah; Ma, Cindy; Grombiříková, Hana; Ciznar, Peter; Dalal, Ilan; Aladjidi, Nathalie; Hie, Miguel; Lazaro, Estibaliz; Franco, Jose; Keles, Sevgi; Malphettes, Marion; Pasquet, Marlene; Maccari, Maria; Meinhardt, Andrea; Ikinciogullari, Aydan; Shahrooei, Mohammad; Celmeli, Fatih; Frosk, Patrick; Goodnow, Christopher; Gray, Paul; Belot, Alexandre; Kuehn, Hye; Rosenzweig, Sergio; Miyara, Makoto; Licciardi, Francesco; Servettaz, Amélie; Barlogis, Vincent; Le Guenno, Guillaume; Herrmann, Vera-Maria; Kuijpers, Taco; Ducoux, Grégoire; Sarrot-Reynauld, Françoise; Schuetz, Catharina; Cunningham-Rundles, Charlotte; Rieux-Laucat, Frédéric; Tangye, Stuart; Sobacchi, Cristina; Doffinger, Rainer; Warnatz, Klaus; Grimbacher, Bodo; Fieschi, Claire; Berteloot, Laureline; Bryant, Vanessa; Trouillet Assant, Sophie; Su, Helen; Neven, Benedicte; Abel, Laurent; Zhang, Qian; Boisson, Bertrand; Cobat, Aurélie; Jouanguy, Emmanuelle; Kampe, Olle; Bastard, Paul; Roifman, Chaim; Landegren, Nils; Notarangelo, Luigi; Le Voyer, Tom; Parent, Audrey; Liu, Xian; Cederholm, Axel; Gervais, Adrian; Rosain, Jérémie; Nguyen, Tina; Perez Lorenzo, Malena; Rackaityte, Elze; Rinchai, Darawan; Zhang, Peng
Nature. 623(7988)
Periodical
CMAJ: Canadian Medical Association Journal. April 15, 2024, Vol. 196 Issue 14, pE501, 5 p.
Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2
Academic Journal
Abdelfatah, Nelly; Chen, Ruping; Duff, Henry J.; Seifer, Colette M.; Buffo, Ilan; Huculak, Cathleen; Clarke, Stephanie; Clegg, Robin; Jassal, Davinder S.; Gordon, Paul M.K.; Ober, Carole; Frosk, Patrick; Gerull, Brenda
In JACC: Basic to Translational Science April 2019 4(2):204-221
Academic Journal
de Kock, Leanne; Cuillerier, Alexanne; Gillespie, Meredith; Couse, Madeline; Hartley, Taila; Mears, Wendy; Bernier, Francois P.; Chudley, Albert E.; Frosk, Patrick; Nikkel, Sarah M.; Innes, A. Micheil; Lauzon, Julie; Thomas, Maryann; Guerin, Andrea; Armour, Christine M.; Weksberg, Rosanna; Scott, James N.; Watkins, Debra; Harvey, Shirley; Cytrynbaum, Cheryl
American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-10, 10p
Periodical
CMAJ: Canadian Medical Association Journal. January 29, 2024, Vol. 196 Issue 3, , E95, p5 p.
Academic Journal
Whalen, Sandra; Shaw, Marie; Mignot, Cyril; Héron, Delphine; Bastaraud, Sandra Chantot; Walti, Cecile Cieuta; Liebelt, Jan; Elmslie, Frances; Yap, Patrick; Hurst, Jane; Forsythe, Elisabeth; Kirmse, Brian; Ozmore, Jillian; Spinelli, Alessandro Mauro; Calabrese, Olga; de Villemeur, Thierry Billette; Tabet, Anne Claude; Levy, Jonathan; Guet, Agnes; Kossorotoff, Manoëlle; Kamien, Benjamin; Morton, Jenny; McCabe, Anne; Brischoux-Boucher, Elise; Raas-Rothschild, Annick; Pini, Antonella; Carroll, Renée; Hartley, Jessica N; Frosk, Patrick; Slavotinek, Anne; Truxal, Kristen; Jennifer, Carroll; Dheedene, Annelies; Cui, Hong; Kumar, Vishal; Thomson, Glen; Riccardi, Florence; Gecz, Jozef; Villard, Laurent
European Journal of Human Genetics. 29(9)
Periodical
Le Voyer, Tom; Parent, Audrey V.; Liu, Xian; Cederholm, Axel; Gervais, Adrian; Rosain, Jérémie; Nguyen, Tina; Perez Lorenzo, Malena; Rackaityte, Elze; Rinchai, Darawan; Zhang, Peng; Bizien, Lucy; Hancioglu, Gonca; Ghillani-Dalbin, Pascale; Charuel, Jean-Luc; Philippot, Quentin; Gueye, Mame Sokhna; Maglorius Renkilaraj, Majistor Raj Luxman; Ogishi, Masato; Soudée, Camille; Migaud, Mélanie; Rozenberg, Flore; Momenilandi, Mana; Riller, Quentin; Imberti, Luisa; Delmonte, Ottavia M.; Müller, Gabriele; Keller, Baerbel; Orrego, Julio; Franco Gallego, William Alexander; Rubin, Tamar; Emiroglu, Melike; Parvaneh, Nima; Eriksson, Daniel; Aranda-Guillen, Maribel; Berrios, David I.; Vong, Linda; Katelaris, Constance H.; Mustillo, Peter; Raedler, Johannes; Bohlen, Jonathan; Bengi Celik, Jale; Astudillo, Camila; Winter, Sarah; McLean, Catriona; Guffroy, Aurélien; DeRisi, Joseph L.; Yu, David; Miller, Corey; Feng, Yi; Guichard, Audrey; Béziat, Vivien; Bustamante, Jacinta; Pan-Hammarström, Qiang; Zhang, Yu; Rosen, Lindsey B.; Holland, Steve M.; Bosticardo, Marita; Kenney, Heather; Castagnoli, Riccardo; Slade, Charlotte A.; Boztuğ, Kaan; Mahlaoui, Nizar; Latour, Sylvain; Abraham, Roshini S.; Lougaris, Vassilios; Hauck, Fabian; Sediva, Anna; Atschekzei, Faranaz; Sogkas, Georgios; Poli, M. Cecilia; Slatter, Mary A.; Palterer, Boaz; Keller, Michael D.; Pinzon-Charry, Alberto; Sullivan, Anna; Droney, Luke; Suan, Daniel; Wong, Melanie; Kane, Alisa; Hu, Hannah; Ma, Cindy; Grombiříková, Hana; Ciznar, Peter; Dalal, Ilan; Aladjidi, Nathalie; Hie, Miguel; Lazaro, Estibaliz; Franco, Jose; Keles, Sevgi; Malphettes, Marion; Pasquet, Marlene; Maccari, Maria Elena; Meinhardt, Andrea; Ikinciogullari, Aydan; Shahrooei, Mohammad; Celmeli, Fatih; Frosk, Patrick; Goodnow, Christopher C.; Gray, Paul E.; Belot, Alexandre; Kuehn, Hye Sun; Rosenzweig, Sergio D.; Miyara, Makoto; Licciardi, Francesco; Servettaz, Amélie; Barlogis, Vincent; Le Guenno, Guillaume; Herrmann, Vera-Maria; Kuijpers, Taco; Ducoux, Grégoire; Sarrot-Reynauld, Françoise; Schuetz, Catharina; Cunningham-Rundles, Charlotte; Rieux-Laucat, Frédéric; Tangye, Stuart G.; Sobacchi, Cristina; Doffinger, Rainer; Warnatz, Klaus; Grimbacher, Bodo; Fieschi, Claire; Berteloot, Laureline; Bryant, Vanessa L.; Trouillet Assant, Sophie; Su, Helen; Neven, Benedicte; Abel, Laurent; Zhang, Qian; Boisson, Bertrand; Cobat, Aurélie; Jouanguy, Emmanuelle; Kampe, Olle; Bastard, Paul; Roifman, Chaim M.; Landegren, Nils; Notarangelo, Luigi D.; Anderson, Mark S.; Casanova, Jean-Laurent; Puel, Anne
Nature; November 2023, Vol. 623 Issue: 7988 p803-813, 11p
Le Voyer, Tom; Parent, Audrey V.; Liu, Xian; Cederholm, Axel; Gervais, Adrian; Rosain, Jeremie; Nguyen, Tina; Lorenzo, Malena Perez; Rackaityte, Elze; Rinchai, Darawan; Zhang, Peng; Bizien, Lucy; Hancioglu, Gonca; Ghillani-Dalbin, Pascale; Charuel, Jean-Luc; Philippot, Quentin; Gueye, Mame Sokhna; Renkilaraj, Majistor Raj Luxman Maglorius; Ogishi, Masato; Soudee, Camille; Migaud, Melanie; Rozenberg, Flore; Momenilandi, Mana; Riller, Quentin; Imberti, Luisa; Delmonte, Ottavia M.; Mueller, Gabriele; Keller, Baerbel; Orrego, Julio; Gallego, William Alexander Franco; Rubin, Tamar; Emiroglu, Melike; Parvaneh, Nima; Eriksson, Daniel; Aranda-Guillen, Maribel; Berrios, David I.; Vong, Linda; Katelaris, Constance H.; Mustillo, Peter; Raedler, Johannes; Bohlen, Jonathan; Celik, Jale Bengi; Astudillo, Camila; Winter, Sarah; McLean, Catriona; Guffroy, Aurelien; DeRisi, Joseph L.; Yu, David; Miller, Corey; Feng, Yi; Guichard, Audrey; Beziat, Vivien; Bustamante, Jacinta; Pan-Hammarstrom, Qiang; Zhang, Yu; Rosen, Lindsey B.; Holland, Steve M.; Bosticardo, Marita; Kenney, Heather; Castagnoli, Riccardo; Slade, Charlotte A.; Boztug, Kaan; Mahlaoui, Nizar; Latour, Sylvain; Abraham, Roshini S.; Lougaris, Vassilios; Hauck, Fabian; Sediva, Anna; Atschekzei, Faranaz; Sogkas, Georgios; Poli, M. Cecilia; Slatter, Mary A.; Palterer, Boaz; Keller, Michael D.; Pinzon-Charry, Alberto; Sullivan, Anna; Droney, Luke; Suan, Daniel; Wong, Melanie; Kane, Alisa; Hu, Hannah; Ma, Cindy; Grombirikova, Hana; Ciznar, Peter; Dalal, Ilan; Aladjidi, Nathalie; Hie, Miguel; Lazaro, Estibaliz; Franco, Jose; Keles, Sevgi; Malphettes, Marion; Pasquet, Marlene; Maccari, Maria Elena; Meinhardt, Andrea; Ikinciogullari, Aydan; Shahrooei, Mohammad; Celmeli, Fatih; Frosk, Patrick; Goodnow, Christopher C.; Gray, Paul E.; Belot, Alexandre; Kuehn, Hye Sun; Rosenzweig, Sergio D.; Miyara, Makoto; Licciardi, Francesco; Servettaz, Amelie; Barlogis, Vincent; Le Guenno, Guillaume; Herrmann, Vera-Maria; Kuijpers, Taco; Ducoux, Gregoire; Sarrot-Reynauld, Francoise; Schuetz, Catharina; Cunningham-Rundles, Charlotte; Rieux-Laucat, Frederic; Tangye, Stuart G.; Sobacchi, Cristina; Doffinger, Rainer; Warnatz, Klaus; Grimbacher, Bodo; Fieschi, Claire; Berteloot, Laureline; Bryant, Vanessa L.; Assant, Sophie Trouillet; Su, Helen; Neven, Benedicte; Abel, Laurent; Zhang, Qian; Boisson, Bertrand; Cobat, Aurelie; Jouanguy, Emmanuelle; Kampe, Olle; Bastard, Paul; Roifman, Chaim M.; Landegren, Nils, 1986; Notarangelo, Luigi D.; Anderson, Mark S.; Casanova, Jean-Laurent; Puel, Anne
Nature. 623(7988):803-813
Academic Journal
de Kock, Leanne; Cuillerier, Alexanne; Gillespie, Meredith; Couse, Madeline; Hartley, Taila; Mears, Wendy; Bernier, Francois P.; Chudley, Albert E.; Frosk, Patrick; Nikkel, Sarah M.; Innes, A. Micheil; Lauzon, Julie; Thomas, Maryann; Guerin, Andrea; Armour, Christine M.; Weksberg, Rosanna; Scott, James N.; Watkins, Debra; Harvey, Shirley; Cytrynbaum, Cheryl; Kernohan, Kristin D.; Boycott, Kym M.; Care4Rare Canada Consortium
Academic Journal
Lu, Henry Y.; Sharma, Mehul; Biggs, Catherine M.; Huang, Yu‐Hsuan; Shopsowitz, Kevin E.; Frosk, Patrick; Priatel, John J.; Rubin, Tamar S.; Turvey, Stuart E.
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