학술논문
'학술논문'
에서 검색결과 62건 | 목록
1~10
Academic Journal
Garrelfs, Sander F.; Chornyi, Serhii; te Brinke, Heleen; Ruiter, Jos; Groothoff, Jaap; Wanders, Ronald J. A.
Journal of Inherited Metabolic Disease; Mar2024, Vol. 47 Issue 2, p280-288, 9p
Academic Journal
Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos PN; van Lint, Alida EM; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Undiagnosed Diseases Network; Waisfisz, Quinten; Zwijnenburg, Petra JG; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine HC; Wanders, Ronald JA; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)
Periodical
Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P.N.; van Lint, Alida E.M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J.; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A.; Macnamara, Ellen F.; Wolfe, Lynne; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Burrage, Lindsay C.; Chao, Hsiao-Tuan; Clark, Gary D.; Craigen, William J.; Dai, Hongzheng; Dhar, Shweta U.; Emrick, Lisa T.; Goldman, Alica M.; Hanchard, Neil A.; Jamal, Fariha; Karaviti, Lefkothea; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Moretti, Paolo M.; Murdock, David R.; Nicholas, Sarah K.; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Rosenfeld, Jill A.; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Liu, Pengfei; Ward, Patricia A.; Behrens, Edward; Deardorff, Matthew; Falk, Marni; Hassey, Kelly; Sullivan, Kathleen; Vanderver, Adeline; Goldstein, David B.; Cope, Heidi; McConkie-Rosell, Allyn; Schoch, Kelly; Shashi, Vandana; Smith, Edward C.; Spillmann, Rebecca C.; Sullivan, Jennifer A.; Tan, Queenie K.-G.; Walley, Nicole M.; Agrawal, Pankaj B.; Beggs, Alan H.; Berry, Gerard T.; Briere, Lauren C.; Cobban, Laurel A.; Coggins, Matthew; Cooper, Cynthia M.; Fieg, Elizabeth L.; High, Frances; Holm, Ingrid A.; Korrick, Susan; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rao, Deepak A.; Rodan, Lance H.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Walsh, Chris A.; Esteves, Cecilia; Kelley, Emily G.; Kohane, Isaac S.; LeBlanc, Kimberly; McCray, Alexa T.; Nagy, Anna; Dasari, Surendra; Lanpher, Brendan C.; Lanza, Ian R.; Morava, Eva; Oglesbee, Devin; Bademci, Guney; Barbouth, Deborah; Bivona, Stephanie; Carrasquillo, Olveen; Chang, Ta Chen Peter; Forghani, Irman; Grajewski, Alana; Isasi, Rosario; Lam, Byron; Levitt, Roy; Liu, Xue Zhong; McCauley, Jacob; Sacco, Ralph; Saporta, Mario; Schaechter, Judy; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Zuchner, Stephan; Colley, Heather A.; Dayal, Jyoti G.; Eckstein, David J.; Findley, Laurie C.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; LaMoure, Grace L.; Goldrich, Madison P.; Urv, Tiina K.; Doss, Argenia L.; Acosta, Maria T.; Bonnenmann, Carsten; D’Souza, Precilla; Draper, David D.; Ferreira, Carlos; Godfrey, Rena A.; Groden, Catherine A.; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; Nath, Avi; Novacic, Donna; Pusey, Barbara N.; Toro, Camilo; Wahl, Colleen E.; Baker, Eva; Burke, Elizabeth A.; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Yang, John; Power, Bradley; Gochuico, Bernadette; Huryn, Laryssa; Latham, Lea; Davis, Joie; Mosbrook-Davis, Deborah; Rossignol, Francis; Solomon, Ben; MacDowall, John; Thurm, Audrey; Zein, Wadih; Yousef, Muhammad; Adam, Margaret; Amendola, Laura; Bamshad, Michael; Beck, Anita; Bennett, Jimmy; Berg-Rood, Beverly; Blue, Elizabeth; Boyd, Brenna; Byers, Peter; Chanprasert, Sirisak; Cunningham, Michael; Dipple, Katrina; Doherty, Daniel; Earl, Dawn; Glass, Ian; Golden-Grant, Katie; Hahn, Sihoun; Hing, Anne; Hisama, Fuki M.; Horike-Pyne, Martha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Lam, Christina; Maravilla, Kenneth; Mefford, Heather; Merritt, J. Lawrence; Mirzaa, Ghayda; Nickerson, Deborah; Raskind, Wendy; Rosenwasser, Natalie; Scott, C. Ron; Sun, Angela; Sybert, Virginia; Wallace, Stephanie; Wener, Mark; Wenger, Tara; Ashley, Euan A.; Bejerano, Gill; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Fernandez, Liliana; Fisher, Paul G.; Fresard, Laure; Hom, Jason; Huang, Yong; Kohler, Jennefer N.; Kravets, Elijah; Majcherska, Marta M.; Martin, Beth A.; Marwaha, Shruti; McCormack, Colleen E.; Raja, Archana N.; Reuter, Chloe M.; Ruzhnikov, Maura; Sampson, Jacinda B.; Smith, Kevin S.; Sutton, Shirley; Tabor, Holly K.; Tucker, Brianna M.; Wheeler, Matthew T.; Zastrow, Diane B.; Zhao, Chunli; Byrd, William E.; Crouse, Andrew B.; Might, Matthew; Nakano-Okuno, Mariko; Whitlock, Jordan; Brown, Gabrielle; Butte, Manish J.; Dell’Angelica, Esteban C.; Dorrani, Naghmeh; Douine, Emilie D.; Fogel, Brent L.; Gutierrez, Irma; Huang, Alden; Krakow, Deborah; Lee, Hane; Loo, Sandra K.; Mak, Bryan C.; Martin, Martin G.; Martínez-Agosto, Julian A.; McGee, Elisabeth; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Renteria, Genecee; Signer, Rebecca H.; Sinsheimer, Janet S.; Wan, Jijun; Wang, Lee-kai; Perry, Katherine Wesseling; Woods, Jeremy D.; Alvey, Justin; Andrews, Ashley; Bale, Jim; Bohnsack, John; Botto, Lorenzo; Carey, John; Pace, Laura; Longo, Nicola; Marth, Gabor; Moretti, Paolo; Quinlan, Aaron; Velinder, Matt; Viskochil, Dave; Bayrak-Toydemir, Pinar; Mao, Rong; Westerfield, Monte; Bican, Anna; Brokamp, Elly; Duncan, Laura; Hamid, Rizwan; Kennedy, Jennifer; Kozuira, Mary; Newman, John H.; Phillips, John A.; Rives, Lynette; Robertson, Amy K.; Solem, Emily; Cogan, Joy D.; Cole, F. Sessions; Hayes, Nichole; Kiley, Dana; Sisco, Kathy; Wambach, Jennifer; Wegner, Daniel; Baldridge, Dustin; Pak, Stephen; Schedl, Timothy; Shin, Jimann; Solnica-Krezel, Lilianna; Waisfisz, Quinten; Zwijnenburg, Petra J.G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H.C.; Wanders, Ronald J.A.; Waterham, Hans R.; Cassiman, David; Vaz, Frédéric M.
Genetics in Medicine; April 2021, Vol. 23 Issue: 4 p740-750, 11p
Academic Journal
Ferdinandusse, Sacha; te Brinke, Heleen; Ruiter, Jos P.N.; Haasjes, Janet; Oostheim, Wendy; Lenthe, Henk; IJlst, Lodewijk; Ebberink, Merel S.; Wanders, Ronald J.A.; Vaz, Frédéric M.; Waterham, Hans R.
Human Mutation; Oct2019, Vol. 40 Issue 10, p1899-1904, 6p
Academic Journal
Knottnerus, Suzan J. G.; Nijmeijer, Stephanie C. M.; IJlst, Lodewijk; te Brinke, Heleen; van Vlies, Naomi; Wijburg, Frits A.
Academic Journal
Ferdinandusse, Sacha; McWalter, Kirsty; te Brinke, Heleen; Ijlst, Lodewijk; Mooijer, Petra M.; Ruiter, Jos P. N.; van Lint, Alida E. M.; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Sacoto, Maria J. Guillen; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L.; Sell, Susan L.; Nowak, Catherine B.; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V.; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A.; Macnamara, Ellen F.; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J. G.; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C.; van Kampen, Antoine H. C.; Wanders, Ronald J. A.; Waterham, Hans R.; Cassiman, David; Vaz, Frederic M.; Undiagnosed Dis Network
Academic Journal
Lagerwaard, Bart; Pougovkina, Olga; Bekebrede, Anna F.; te Brinke, Heleen; Wanders, Ronald J. A.; Nieuwenhuizen, Arie G.; Keijer, Jaap; de Boer, Vincent C. J.
Academic Journal
Ferdinandusse, Sacha; te Brinke, Heleen; Ruiter, Jos P. N.; Haasjes, Janet; Oostheim, Wendy; van Lenthe, Henk; IJlst, Lodewijk; Ebberink, Merel S.; Wanders, Ronald J. A.; Vaz, Frederic M.; Waterham, Hans R.
Academic Journal
Houten, Sander M.; Denis, Simone; te Brinke, Heleen; Jongejan, Aldo; van Kampen, Antoine H.C.; Bradley, Edward J.; Baas, Frank; Hennekam, Raoul C.M.; Millington, David S.; Young, Sarah P.; Frazier, Dianne M.; Gucsavas-Calikoglu, Muge; Wanders, Ronald J.A.
Human Molecular Genetics. Sep 15, 2014 23(18):5009-5016
Academic Journal
Pougovkina, Olga; te Brinke, Heleen; Ofman, Rob; van Cruchten, Arno G.; Kulik, Wim; Wanders, Ronald J.A.; Houten, Sander M.; de Boer, Vincent C.J.
Human Molecular Genetics. Jul 01, 2014 23(13):3513-3522
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