Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis von Glinton, Kevin E, Gijavanekar, Charul, Rajagopal, Abbhirami, Mackay, Laura P, Martin, Kirt A, Pearl, Phillip L, Gibson, K Michael, Wilson, Theresa A, Sutton, V Reid, Elsea, Sarah H

Volltext

Cyanobacterial signature genes von Martin, Kirt A, Siefert, Janet L, Yerrapragada, Sailaja, Lu, Yue, McNeill, Thomas Z, Moreno, Pedro A, Weinstock, George M, Widger, William R, Fox, George E

Volltext

COMPREHENSIVE SCREENING OF BLOOD-BASED BIOMARKERS IMPROVES DIAGNOSIS OF GABA CATABOLISM ABNORMALITIES AND HIGHLIGHTS OPPORTUNITIES TO REDUCE HEALTH DISPARITIES IN GENETIC DIAGNOSIS von Gijavanekar, Charul, Glinton, Kevin E., Martin, Kirt A., Wilson, Theresa A., Sutton, Vernon R., Elsea, Sarah H.

Volltext

Conserved gene clusters in bacterial genomes provide further support for the primacy of RNA von Siefert, J. L., Martin, K. A., Abdi, F., Widger, W. R., Fox, G. E.

Volltext

Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency von Martin, Kirt, McConnell, Alice, Elsea, Sarah H.

Volltext

The Signaling Pathways Project, an integrated ‘omics knowledgebase for mammalian cellular signaling pathways von Ochsner, Scott A., Abraham, David, Martin, Kirt, Ding, Wei, McOwiti, Apollo, Kankanamge, Wasula, Wang, Zichen, Andreano, Kaitlyn, Hamilton, Ross A., Chen, Yue, Hamilton, Angelica, Gantner, Marin L., Dehart, Michael, Qu, Shijing, Hilsenbeck, Susan G., Becnel, Lauren B., Bridges, Dave, Ma’ayan, Avi, Huss, Janice M., Stossi, Fabio, Foulds, Charles E., Kralli, Anastasia, McDonnell, Donald P., McKenna, Neil J.

Volltext

P015: Screening for disorders of GABA metabolism: Integration of sequencing and metabolomic screening supports early diagnosis and expands access to care von Glinton, Kevin, Gijavanekar, Charul, Martin, Kirt, Wilson, Theresa, Sutton, Vernon, Elsea, Sarah

Volltext

Abstract TP356: Post-Acute Stroke Experience Survey- Development and Pilot Testing von Anderson, Jane A, Kimmel, Barbara, Martin, Kirt, Ovalle, Anette, Ifeorah, Chizoba, Jobe, Emilia, Evans-Hudnall, Gina, Venkatasubba Rao, Chethan P

Volltext

ASAH1pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy von Elsea, Sarah H., Solyom, Alexander, Martin, Kirt, Harmatz, Paul, Mitchell, John, Lampe, Christina, Grant, Christina, Selim, Laila, Mungan, Neslihan Oneli, Guelbert, Norberto, Magnusson, Bo, Sundberg, Erik, Puri, Ratna, Kapoor, Seema, Arslan, Nur, DiRocco, Maja, Zaki, Maha, Ozen, Seza, Mahmoud, Iman G., Ehlert, Karoline, Hahn, Andreas, Gokcay, Gulden, Torcoletti, Marta, Ferreira, Carlos R.

Volltext

Genome sequence of the Brown Norway rat yields insights into mammalian evolution von Gibbs, Richard A, Weinstock, George M, Metzker, Michael L, Muzny, Donna M, Sodergren, Erica J, Scherer, Steven, Scott, Graham, Steffen, David, Worley, Kim C, Burch, Paula E, Okwuonu, Geoffrey, Hines, Sandra, Lewis, Lora, DeRamo, Christine, Delgado, Oliver, Dugan-Rocha, Shannon, Miner, George, Morgan, Margaret, Hawes, Alicia, Gill, Rachel, Celera, Holt, Robert A, Adams, Mark D, Amanatides, Peter G, Baden-Tillson, Holly, Barnstead, Mary, Chin, Soo, Evans, Cheryl A, Ferriera, Steve, Fosler, Carl, Glodek, Anna, Gu, Zhiping, Jennings, Don, Kraft, Cheryl L, Nguyen, Trixie, Pfannkoch, Cynthia M, Sitter, Cynthia, Sutton, Granger G, Venter, J Craig, Woodage, Trevor, Smith, Douglas, Lee, Hong-Mei, Gustafson, Erik, Cahill, Patrick, Kana, Arnold, Doucette-Stamm, Lynn, Weinstock, Keith, Fechtel, Kim, Weiss, Robert B, Dunn, Diane M, Green, Eric D, Blakesley, Robert W, Bouffard, Gerard G, De Jong, Pieter J, Osoegawa, Kazutoyo, Zhu, Baoli, Marra, Marco, Schein, Jacqueline, Bosdet, Ian, Fjell, Chris, Jones, Steven, Krzywinski, Martin, Mathewson, Carrie, Siddiqui, Asim, Wye, Natasja, McPherson, John, Zhao, Shaying, Fraser, Claire M, Shetty, Jyoti, Shatsman, Sofiya, Geer, Keita, Chen, Yixin, Abramzon, Sofyia, Nierman, William C, Havlak, Paul H, Chen, Rui, Durbin, K James, Simons, Rain, Ren, Yanru, Song, Xing-Zhi, Li, Bingshan, Liu, Yue, Qin, Xiang, Cawley, Simon, Cooney, A J, D'Souza, Lisa M, Martin, Kirt, Wu, Jia Qian, Gonzalez-Garay, Manuel L, Jackson, Andrew R, Kalafus, Kenneth J, McLeod, Michael P, Milosavljevic, Aleksandar, Virk, Davinder, Volkov, Andrei, Wheeler, David A, Zhang, Zhengdong, Bailey, Jeffrey A, Eichler, Evan E

Volltext

ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy von Elsea, Sarah H., Solyom, Alexander, Martin, Kirt, Harmatz, Paul, Mitchell, John, Lampe, Christina, Grant, Christina, Selim, Laila, Mungan, Neslihan Oneli, Guelbert, Norberto, Magnusson, Bo, Sundberg, Erik, Puri, Ratna, Kapoor, Seema, Arslan, Nur, DiRocco, Maja, Zaki, Maha, Ozen, Seza, Mahmoud, Iman G., Ehlert, Karoline, Hahn, Andreas, Gokcay, Gulden, Torcoletti, Marta, Ferreira, Carlos R.

Volltext

Genetic structure of Florida green turtle rookeries as indicated by mitochondrial DNA control region sequences von Shamblin, Brian M., Bagley, Dean A., Ehrhart, Llewellyn M., Desjardin, Nicole A., Martin, R. Erik, Hart, Kristen M., Naro-Maciel, Eugenia, Rusenko, Kirt, Stiner, John C., Sobel, Debra, Johnson, Chris, Wilmers, Thomas J., Wright, Laura J., Nairn, Campbell J.

Volltext

Carbon partitioning to cellulose synthesis von Haigler, C H, Ivanova-Datcheva, M, Hogan, P S, Salnikov, V V, Hwang, S, Martin, K, Delmer, D P

Volltext

Cool temperature hinders flux from glucose to sucrose during cellulose synthesis in secondary wall stage cotton fibers von Martin, L. Kirt, Haigler, Candace H.

Volltext

Arsenic Uptake by Muskmelon (Cucumismelo) Plants from Contaminated Water von Hettick, Bryan E., Cañas-Carrell, Jaclyn E., Martin, Kirt, French, Amanda D., Klein, David M.

Volltext

Prevalence of Bordetella pertussis and Bordetella parapertussis in Infants Presenting to the Emergency Department with Bronchiolitis von Walsh, Paul F., MD, FACEP, Kimmel, Lauren, BA, Feola, Melanie, BS, Tran, Ty, BS, Lim, Christina, BS, Salvia, Lisa De, BS, Pusavat, James, BS, Michaelson, Scott, DO, Nguyen, Tuan Anh, Emery, Kirt, MPH, Mordechai, Eli, PHD, Adelson, Martin E., PHD

Volltext

Support table von Martin, Kirt, Posthumus, Nathan

Volltext bestellen

Frame type workstation configurations von Eberlein, David C, Biddle, Fredric, Martin, Kirt

Volltext bestellen

Frame type workstation configurations von Eberlein, David C, Biddle, Fredric, Martin, Kirt

Volltext bestellen

Frame type workstation configurations von Eberlein, David C, Biddle, Fredric, Martin, Kirt

Volltext bestellen