학술논문
'학술논문'
에서 검색결과 64건 | 목록
1~10
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, Audrey Stephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan; Ganetzky, Rebecca; Kranz, Peter G.; Sondheimer, Neal; Markert, M. Louise; Sadeghpour, Azita; Roehrs, Philip; Arbogast, Thomas; Muraresku, Colleen; Tyndall, Amanda V.; Esser, Michael J.; Woodward, Kristine E.; Ping-Yee Au, Billie; Parboosingh, Jillian S.; Lamont, Ryan E.; Bernier, Francois P.; Wright, Nicola A.M.; Benseler, Susa M.; Parsons, Simon J.; El-Dairi, Mays; Valdez, Purnima; Tennison, Michael; Innes, A. Micheil; Davis, Erica E.
In Genetics in Medicine September 2023 25(9)
Academic Journal
Lamont, Ryan E.; Xi, Yanwei; Popko, Claire; Lazier, Joanna; Bernier, Francois P.; Lauzon, Julie L.; Innes, A. Micheil; Parboosingh, Jillian S.; Thomas, Mary Ann
In Journal of Obstetrics and Gynaecology Canada November 2018 40(11):1417-1423
Academic Journal
Blackwell, Danielle L.; Fraser, Sherri D.; Caluseriu, Oana; Vivori, Claudia; Tyndall, Amanda V.; Lamont, Ryan E.; Parboosingh, Jillian S.; Innes, A. Micheil; Bernier, Franc¸ois P.; Childs, Sarah J.
Academic Journal
Shashi, Vandana; Schoch, Kelly; Ganetzky, Rebecca; Kranz, Peter G.; Sondheimer, Neal; Markert, M. Louise; Cope, Heidi; Sadeghpour, Azita; Roehrs, Philip; Arbogast, Thomas; Muraresku, Colleen; Undiagnosed Dis Network, Undiagnosed Diseases; Tyndall, Amanda V.; Esser, Michael J.; Woodward, Kristine E.; Au, Billie Ping-Yee; Parboosingh, Jillian S.; Lamont, Ryan E.; Bernier, Francois P.; Wright, Nicola A. M.; Benseler, Susa M.; Parsons, Simon J.; El-Dairi, Mays; Smith, Edward C.; Valdez, Purnima; Tennison, Michael; Innes, A. Micheil; Davias, Erica E.
Academic Journal
Punetha, Jaya; Karaca, Ender; Gezdirici, Alper; Lamont, Ryan E.; Pehlivan, Davut; Marafi, Dana; Appendino, Juan P.; Hunter, Jill V.; Akdemir, Zeynep C.; Fatih, Jawid M.; Jhangiani, Shalini N.; Gibbs, Richard A.; Innes, A. Micheil; Posey, Jennifer E.; Lupski, James R.
Academic Journal
Eaton, Alison; Bernier, Francois P.; Goedhart, Caitlin; Caluseriu, Oana; Lamont, Ryan E.; Boycott, Kym M.; Parboosingh, Jillian S.; Innes, A. Micheil
American Journal of Medical Genetics. Part A; Nov2018, Vol. 176 Issue 11, p2487-2493, 7p
Periodical
Krall, Max; Htun, Stephanie; Schnur, Rhonda E.; Brooks, Alice S.; Baker, Laura; de Alba Campomanes, Alejandra; Lamont, Ryan E.; Gripp, Karen W.; Schneidman-Duhovny, Dina; Innes, A. Micheil; Mancini, Grazia M. S.; Slavotinek, Anne M.
European Journal of Human Genetics: EJHG; April 2019, Vol. 27 Issue: 4 p582-593, 12p
Academic Journal
Mighton, Chloe; Smith, Amanda C.; Mayers, Justin; Tomaszewski, Robert; Taylor, Sherryl; Hume, Stacey; Agatep, Ron; Spriggs, Elizabeth; Feilotter, Harriet E.; Semenuk, Laura; Wong, Henry; Lazo de la Vega, Lorena; Marshall, Christian R.; Axford, Michelle M.; Silver, Talia; Charames, George S.; Di Gioacchino, Vanessa; Watkins, Nicholas; Foulkes, William D.; Clavier, Marcos; Hamel, Nancy; Chong, George; Lamont, Ryan E.; Parboosingh, Jillian; Karsan, Aly; Bosdet, Ian; Young, Sean S.; Tucker, Tracy; Akbari, Mohammad Reza; Speevak, Marsha D.; Vaags, Andrea K.; Lebo, Matthew S.; Lerner-Ellis, Jordan; Canadian Open Genetics Repository
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
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[AR] Lamont, Ryan E.
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