WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta by Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.

Get full text

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis by Muftuoglu, Meltem, Oshima, Junko, von Kobbe, Cayetano, Cheng, Wen-Hsing, Leistritz, Dru F., Bohr, Vilhelm A.

Get full text

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes by PYOTT, Shawna M, SCHWARZE, Ulrike, SUSSMAN, Michael D, WEIS, Maryann, EYRE, David R, RUSSELL, David W, MCCARTHY, Kevin J, STEINER, Robert D, BYERS, Peter H, CHRISTIANSEN, Helena E, PEPIN, Melanie G, LEISTRITZ, Dru F, DINEEN, Richard, HARRIS, Catharine, BURTON, Barbara K, ANGLE, Brad, KIM, Katherine

Get full text

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family by Jørgensen, Agnete, Fagerheim, Toril, Rand-Hendriksen, Svend, Lunde, Per I, Vorren, Torgrim O, Pepin, Melanie G, Leistritz, Dru F, Byers, Peter H

Get full text

The spectrum of WRN mutations in Werner syndrome patients by Huang, Shurong, Lee, Lin, Hanson, Nancy B., Lenaerts, Catherine, Hoehn, Holger, Poot, Martin, Rubin, Craig D., Chen, Da-Fu, Yang, Chih-Chao, Juch, Heike, Dorn, Thomas, Spiegel, Roland, Oral, Elif Arioglu, Abid, Mohammed, Battisti, Carla, Lucci-Cordisco, Emanuela, Neri, Giovanni, Steed, Erin H., Kidd, Alexa, Isley, William, Showalter, David, Vittone, Janet L., Konstantinow, Alexander, Ring, Johannes, Meyer, Peter, Wenger, Sharon L., Herbay, Axel von, Wollina, Uwe, Schuelke, Markus, Huizenga, Carin R., Leistritz, Dru F., Martin, George M., Mian, I. Saira, Oshima, Junko

Get full text

The radiosensitizing agent 7-hydroxystaurosporine (UCN-01) inhibits the DNA damage checkpoint kinase hChk1 by BUSBY, E. C, LEISTRITZ, D. F, ABRAHAM, R. T, KARNITZ, L. M, SARKARIA, J. N

Get full text

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations by Friedrich, Katrin, Lee, Lin, Leistritz, Dru F, Nürnberg, Gudrun, Saha, Bidisha, Hisama, Fuki M, Eyman, Daniel K, Lessel, Davor, Nürnberg, Peter, Li, Chumei, Garcia-F-Villalta, María J, Kets, Carolien M, Schmidtke, Joerg, Cruz, Vítor Tedim, Van den Akker, Peter C, Boak, Joseph, Peter, Dincy, Compoginis, Goli, Cefle, Kivanc, Ozturk, Sukru, López, Norberto, Wessel, Theda, Poot, Martin, Ippel, P. F, Groff-Kellermann, Birgit, Hoehn, Holger, Martin, George M, Kubisch, Christian, Oshima, Junko

Get full text

Collagen expression in fibroblasts with a novel LMNA mutation by Nguyen, Desiree, Leistritz, Dru F., Turner, Lesley, MacGregor, David, Ohson, Kamal, Dancey, Paul, Martin, George M., Oshima, Junko

Get full text

Genomic data in the All of Us Research Program by Bick, Alexander G., Metcalf, Ginger A., Mayo, Kelsey R., Lichtenstein, Lee, Rura, Shimon, Carroll, Robert J., Musick, Anjene, Linder, Jodell E., Jordan, I. King, Nagar, Shashwat Deepali, Sharma, Shivam, Meller, Robert, Basford, Melissa, Boerwinkle, Eric, Cicek, Mine S., Doheny, Kimberly F., Eichler, Evan E., Gabriel, Stacey, Gibbs, Richard A., Glazer, David, Harris, Paul A., Jarvik, Gail P., Philippakis, Anthony, Rehm, Heidi L., Roden, Dan M., Thibodeau, Stephen N., Topper, Scott, Blegen, Ashley L., Wirkus, Samantha J., Wagner, Victoria A., Meyer, Jeffrey G., Muzny, Donna M., Venner, Eric, Mawhinney, Michelle Z., Griffith, Sean M. L., Hsu, Elvin, Ling, Hua, Adams, Marcia K., Walker, Kimberly, Hu, Jianhong, Doddapaneni, Harsha, Kovar, Christie L., Murugan, Mullai, Dugan, Shannon, Khan, Ziad, Lennon, Niall J., Austin-Tse, Christina, Banks, Eric, Gatzen, Michael, Gupta, Namrata, Henricks, Emma, Larsson, Katie, McDonough, Sheli, Harrison, Steven M., Kachulis, Christopher, Lebo, Matthew S., Neben, Cynthia L., Steeves, Marcie, Zhou, Alicia Y., Smith, Joshua D., Frazar, Christian D., Davis, Colleen P., Patterson, Karynne E., Wheeler, Marsha M., McGee, Sean, Lockwood, Christina M., Shirts, Brian H., Pritchard, Colin C., Murray, Mitzi L., Vasta, Valeria, Leistritz, Dru, Richardson, Matthew A., Buchan, Jillian G., Radhakrishnan, Aparna, Krumm, Niklas, Ehmen, Brenna W., Schwartz, Sophie, Aster, M. Morgan T., Cibulskis, Kristian, Haessly, Andrea, Asch, Rebecca, Cremer, Aurora, Degatano, Kylee, Shergill, Akum, Gauthier, Laura D., Lee, Samuel K., Hatcher, Aaron, Grant, George B., Brandt, Genevieve R., Covarrubias, Miguel, Able, Ashley, Green, Ashley E., Zhang, Jennifer, Condon, Henry R., Wang, Yuanyuan, Dillon, Moira K., Albach, C. H., Baalawi, Wail, Choi, Seung Hoan, Wang, Xin

Get full text