학술논문
'학술논문'
에서 검색결과 139건 | 목록
10~20
Academic Journal
Bashir, Rani A.; Dixit, Abhijit; Goedhart, Caitlin; Parboosingh, Jillian S.; Innes, Allan M.; Ferreira, Patrick; Hasan, Shabih U.; Au, Ping‐Yee B.
American Journal of Medical Genetics Part A. Oct 01, 2017 173(10):i-i
Academic Journal
Lamont, Ryan E.; Beaulieu, Chandree L.; Bernier, Francois P.; Sparkes, Rebecca; Innes, A. Micheil; Jackel‐Cram, Candice; Ober, Carole; Parboosingh, Jillian S.; Lemire, Edmond G.
American Journal of Medical Genetics. Part A; Mar2017, Vol. 173 Issue 3, p596-600, 5p
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Academic Journal
Lovric, Svjetlana; Goncalves, Sara; Gee, Heon Yung; Oskouian, Babak; Srinivas, Honnappa; Choi, Won-Il; Shril, Shirlee; Ashraf, Shazia; Tan, Weizhen; Rao, Jia; Airik, Merlin; Schapiro, David; Braun, Daniela A.; Sadowski, Carolin E.; Widmeier, Eugen; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Girik, Vladimir; Capitani, Guido; Suh, Jung H.; Lachaussée, Noëlle; Arrondel, Christelle; Patat, Julie; Gribouval, Olivier; Furlano, Monica; Boyer, Olivia; Schmitt, Alain; Vuiblet, Vincent; Hashmi, Seema; Wilcken, Rainer; Bernier, Francois P.; Innes, A. Micheil; Parboosingh, Jillian S.; Lamont, Ryan E.; Midgley, Julian P.; Wright, Nicola; Majewski, Jacek; Zenker, Martin; Schaefer, Franz; Kuss, Navina; Greil, Johann; Giese, Thomas; Schwarz, Klaus; Catheline, Vilain; Schanze, Denny; Franke, Ingolf; Sznajer, Yves; Truant, Anne S.; Adams, Brigitte; Désir, Julie; Biemann, Ronald; Pei, York; Ars, Elisabet; Lloberas, Nuria; Madrid, Alvaro; Dharnidharka, Vikas R.; Connolly, Anne M.; Willing, Marcia C.; Cooper, Megan A.; Lifton, Richard P.; Simons, Matias; Riezman, Howard; Antignac, Corinne; Saba, Julie D.; Hildebrandt, Friedhelm
Journal of Clinical Investigation. Mar 01, 2017 127(3):912-928
Academic Journal
Lamont, Ryan E.; Beaulieu, Chandree L.; Bernier, Francois P.; Sparkes, Rebecca; Innes, Micheil A.; Jackel-Cram, Candice; Ober, Carole; Parboosingh, Jillian S.; Lemire, Edmond G.
American Journal Of Medical Genetics - A. Mar 01, 2017 173(3):596-600
Academic Journal
Mosca, Stephen J.; Langevin, Lisa Marie; Dewey, Deborah; Innes, A. Micheil; Lionel, Anath C.; Marshall, Christian C.; Scherer, Stephen W.; Parboosingh, Jillian S.; Bernier, Francois P.
Journal of Medical Genetics; Dec2016, Vol. 53 Issue 12, p812-819, 8p, 3 Charts, 1 Graph
Academic Journal
Drogos, Lauren L.; Gill, Stephanie J.; Tyndall, Amanda V.; Raneri, Jill K.; Parboosingh, Jillian S.; Naef, Aileen; Guild, Kyle D.; Eskes, Gail; Hanly, Patrick J.; Poulin, Marc J.
Neurology; 10/25/2016, Vol. 87 Issue 17, p1836-1842, 7p
Academic Journal
Weng, Patricia L.; Majmundar, Amar J.; Khan, Kamal; Lim, Tze Y.; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F.; Aggarwal, Vimla S.; Bier, Louise E.; Heinzen, Erin L.; Onuchic-Whitford, Ana C.; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M.; Klambt, Verena; Kolb, Amy; Mao, Youying; El Achkar, Christelle Moufawad; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B.; Altmuller, Janine; Benz, Marcus R.; Yano, Shoji; Mikati, Mohamad A.; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa S.; Martinez-Agosto, Julian A.; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda, V; Parboosingh, Jillian S.; Innes, A. Micheil; Bierzynska, Agnieszka; Koziell, Ania B.; Muorah, Mordi; Saleem, Moin A.; Hoefele, Julia; Riedhammer, Korbinian M.; Gharavi, Ali G.; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor G.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Mane, Shrikant; D'Agati, Vivette D.; Pollak, Martin R.; Ghiggeri, Gian Marco; Lifton, Richard P.; Goldstein, David B.; Davis, Erica E.; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Undiagnosed Dis Network; UCLA Clinical Genomics Ctr
Academic Journal
Sterling, Noelle; Duncan, Anna R.; Park, Raehee; Koolen, David A.; Shi, Jiahai; Cho, Seo-Hee; Benke, Paul J.; Grant, Patricia E.; Genetti, Casie A.; VanNoy, Grace E.; Juusola, Jane; McWalter, Kirsty; Parboosingh, Jillian S.; Lamont, Ryan E.; Bernier, Francois P.; Smith, Christopher; Harris, David J.; Stegmann, Alexander P. A.; Innes, A. Micheil; Kim, Seonhee; Agrawal, Pankaj B.
Sajid, Umair; Argiropoulos, Bob; Wei, Xing-Chang; Parboosingh, Jillian S.; Lamont, Ryan E.; Khan, Aneal; Greenway, Steven C.
In Canadian Journal of Cardiology February 2017 33(2):292-292
Academic Journal
Smith, Christopher; Lamont, Ryan E.; Wade, Andrew; Bernier, Francois P.; Parboosingh, Jillian S.; Innes, Micheil A.
American Journal Of Medical Genetics - A. Mar 01, 2016 170(3):760-765
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[AR] Parboosingh, Jillian S.
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