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by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
by Jarvik, Gail P and Amendola, Laura M and Berg, Jonathan S and Brothers, Kyle and Clayton, Ellen W and Chung, Wendy and Evans, Barbara J and Evans, James P and Fullerton, Stephanie M and Gallego, Carlos J and Garrison, Nanibaa’ A and Gray, Stacy W and Holm, Ingrid A and Kullo, Iftikhar J and Lehmann, Lisa Soleymani and McCarty, Cathy and Prows, Cynthia A and Rehm, Heidi L and Sharp, Richard R and Salama, Joseph and Sanderson, Saskia and Van Driest, Sara L and Williams, Marc S and Williams, Janet and Wolf, Wendy A and Wolf, Susan M and Harley, John and Myers, Melanie and Namjou, Bahram and Vinks, Sander and Connolly, John and Keating, Brendan and Gerhard, Glenn and Sundaresan, Agnes and Tromp, Gerard and Crosslin, David and Leppig, Kathy and Wicklund, Cathy and Chute, Christopher and Lynch, John and De Andrade, Mariza and Heit, John and McCormick, Jen and Brilliant, Murray and Kitchner, Terrie and Ritchie, Marylyn and Böttinger, Erwin and Peter, Inga and Persell, Stephen and Rasmussen-Torvik, Laura and McGregor, Tracy and Roden, Dan and Antommaria, Armand and Chiavacci, Rosetta and Faucett, Andy and Ledbetter, David and Hartzler, Andrea and Vitek, Carolyn R. Rohrer and Frost, Norm and Ferryman, Kadija and Horowitz, Carol and Rhodes, Rosamond and Zinberg, Randi and Aufox, Sharon and Pan, Vivian and Long, Rochelle and Ramos, Erin and Odgis, Jackie and Wise, Anastasia and Hull, Sara and Gitlin, Jonathan and Green, Robert and Metterville, Danielle and McGuire, Amy and Kong, Sek Won and Trinidad, Sue and Veenstra, David and Roche, Myra and Skinner, Debra and Raspberry, Kelly and O’Daniel, Julianne and Parsons, Will and Eng, Christine and Hilsenbeck, Susan and Karavite, Dean and Conlin, Laura and Spinner, Nancy and Krantz, Ian and Falk, Marni and Santani, Avni and Dechene, Elizabeth and Dulik, Matthew and Bernhardt, Barbara and Schuetze, Scott and Everett, Jessica and Gornick, Michele Caroline and Wilfond, Ben and Tabor, Holly and Lemke, Amy A and Richards, Sue and ... and CERC Comm and CSER Act-ROR Working Grp and eMERGE Act-ROR Comm and eMERGE Act-ROR Committee and CERC Committee and CSER Act-ROR Working Group
The American Journal of Human Genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 818 - 826
Journal Article
by Redin, C and Brand, H and Collins, R.L and Kammin, T and Mitchell, E and Hodge, J.C and Hanscom, C and Pillalamarri, V and Seabra, C.M and Abbott, M.-A and Abdul-Rahman, Omar and Aberg, E and Adley, R and Alcaraz-Estrada, S.L and Alkuraya, Fowzan S and An, Y and Anderson, M.-A and Antolik, C and Anyane-Yeboa, K and Atkin, Joan and Bartell, T and Bernstein, J.A and Beyer, E and Blumenthal, I and Bongers, Ernie and Brilstra, E.H and Brown, C.W and Brüggenwirth, Hennie and Callewaert, L and Chiang, C and Corning, K and Cox, H and Cuppen, Edwin and Currall, B.B and Cushing, Tom and David, D and Deardorff, Matthew and Dheedene, Annelies and D'Hooghe, Marc and Vries, Boukje and Earl, D.L and Ferguson, H.L and Fisher, H and Fitzpatrick, David R and Gerrol, P and Giachino, D and Glessner, J.T and Gliem, T and Grady, M and Graham, B.H and Griffis, C and Gripp, Karen and Gropman, A.L and Hanson-Kahn, A and Harris, D.J and Hayden, M.A and Hill, R and Hochstenbach, R and Hoffman, J.D and Hopkin, R and Hubshman, M.W and Innes, M and Irons, M and Irving, M and Jacobsen, J.C and Janssens, Sana and Jewett, T and Johnson, J.P and Jongmans, Marjolijn and Kahler, Stephen G and Koolen, David and Korzelius, J and Kroisel, Peter and Lacassie, Y and Lawless, W and Lemyre, E and Leppig, Kathy and Levin, A.V and Li, H and Liao, E.C and Lim, C and Lose, E.J and Lucente, D and MacEra, M.J and Manavalan, P and Manile, G and Marcelis, Carlo and Margolin, L and Mason, T and Masser-Frye, Diane and McClellan, M.W and Zepeda Mendoza, C.J and Menten, B and Middelkamp, S and Mikami, L.R and Moe, E and Mohammed, Shabaz and Mononen, T and Mortenson, M.E and Moya, G and ...
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
Brain, ISSN 0006-8950, 2010, Volume 133, Issue Part 3, pp. 655 - 670
Journal Article
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article
by Verma, Shefali Setia and Cooke Bailey, Jessica N and Lucas, Anastasia and Bradford, Yuki and Linneman, James G and Hauser, Michael A and Pasquale, Louis R and Peissig, Peggy L and Brilliant, Murray H and McCarty, Catherine A and Haines, Jonathan L and Wiggs, Janey L and Vrabec, Tamara R and Tromp, Gerard and Ritchie, Marylyn D and Bickel, Jonathan and Chandler, Ariel and Holm, Ingrid and Kohane, Isaac and Manzi, Shannon and Markianos, Kyriacos and Palmer, Nathan and Perry, Cassandra and Savova, Guergana and Wolf, Wendy and Wong Kong, Sek and Antommaria, Armand and Cobb, Beth and Harley, John and Hutton, John and Lingren, Todd and Lynch, John and Marsolo, Keith and Myers, Melanie and Namjou, Bahram and Prows, Cindy and Solti, Imre and Vinks, Sander and Wagner, Michael and Abrams, Debbie and Almoguera, Berta and Chiavacci, Rosetta and Connolly, John and Devoto, Marcella and Hakonarson, Hakon and Keating, Brendan and Kim, Cecilia and Mentch, Frank and Qui, Haijun and Sleiman, Patrick and Tian, Lifeng and Vazquez, Lyam and Bartko, Brynn and Bock, Jonathan and Borthwick, Ken and Carey, David and Colonie, Ryan and Elston, Robert and Faucett, Andy and Fetterolf, Samantha and Gerhard, Glenn and Kuivaniemi, Helena and Ledbetter, David and Lipsky, Eric and Pendergrass, Sarah and Sundaresan, Agnes and Smelser, Diane and Williams, Janet and Williams, Marc and Wood, Craig and Albrecht, Jen and Carlson, Chris and Carrell, David and Crane, Paul and Cronkite, David and Crosslin, David and Davis, Colleen and Ehrlich, Kelly and Fullterton, Malia and Gallego, Carlos and Gordon, Adam and Grafton, Jane and Hansen, Kelly and Hartzler, Andrea and Jarvik, Gail and Larson, Eric and Leppig, Kathy and Mukherjee, Shubhabrata and Ralston, James and Scrol, Aaron and Tarczy-Hornoch, Peter and Trinidad, Sue and Bielinski, Sue and Bruce, Kevin and Chute, Chris and De Andrade, Mariza and Jouni, Hayan and Heit, John and Isseh, Iyad and Koenig, Barbara and ... and NEIGHBOR Consortium and eMERGE Network
PLoS Genetics, ISSN 1553-7390, 09/2016, Volume 12, Issue 9, p. e1006186
Journal Article
Brain, ISSN 0006-8950, 03/2010, Volume 133, pp. 655 - 670
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into... 
SLC2A1 gene | phenotype | CYSTEINE-SCANNING MUTAGENESIS | KETOGENIC-DIET | SLC2A1 | FACILITATIVE GLUCOSE-TRANSPORTER | BLOOD-BRAIN-BARRIER | GLUT-1 DEFICIENCY | ketogenic diet | cerebrospinal fluid | INDUCED DYSKINESIAS | EPILEPSY | MUTATIONS | PROTEINS | GLUT1 deficiency syndrome
Journal Article
JAMA, ISSN 0098-7484, 01/1995, Volume 273, Issue 1, pp. 66 - 68
Objective.—To assess the potential availability and utility of fetal tissues obtained from spontaneous abortions and from ectopic pregnancies for human... 
MEDICINE, GENERAL & INTERNAL | Evaluation | Fetal tissues | Pregnancy, Ectopic | Miscarriage | Health aspects
Journal Article