Identification of critical regions for clinical features of distal 10q deletion syndrome von Yatsenko, SA, Kruer, MC, Bader, PI, Corzo, D, Schuette, J, Keegan, CE, Nowakowska, B, Peacock, S, Cai, WW, Peiffer, DA, Gunderson, KL, Ou, Z, Chinault, AC, Cheung, SW

Volltext

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes von Lionel, Anath C., Tammimies, Kristiina, Vaags, Andrea K., Rosenfeld, Jill A., Ahn, Joo Wook, Merico, Daniele, Noor, Abdul, Runke, Cassandra K., Pillalamarri, Vamsee K., Carter, Melissa T., Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Fagerberg, Christina, Laulund, Lone W., Pellecchia, Giovanna, Lamoureux, Sylvia, Deshpande, Charu, Clayton-Smith, Jill, White, Ann C., Leather, Susan, Trounce, John, Melanie Bedford, H., Hatchwell, Eli, Eis, Peggy S., Yuen, Ryan K.C., Walker, Susan, Uddin, Mohammed, Geraghty, Michael T., Nikkel, Sarah M., Tomiak, Eva M., Fernandez, Bridget A., Soreni, Noam, Crosbie, Jennifer, Arnold, Paul D., Schachar, Russell J., Roberts, Wendy, Paterson, Andrew D., So, Joyce, Szatmari, Peter, Chrysler, Christina, Woodbury-Smith, Marc, Brian Lowry, R., Zwaigenbaum, Lonnie, Mandyam, Divya, Wei, John, MacDonald, Jeffrey R., Howe, Jennifer L., Nalpathamkalam, Thomas, Wang, Zhuozhi, Tolson, Daniel, Cobb, David S., Wilks, Timothy M., Sorensen, Mark J., Bader, Patricia I., An, Yu, Wu, Bai-Lin, Musumeci, Sebastiano Antonino, Romano, Corrado, Postorivo, Diana, Nardone, Anna M., Monica, Matteo Della, Scarano, Gioacchino, Zoccante, Leonardo, Novara, Francesca, Zuffardi, Orsetta, Ciccone, Roberto, Antona, Vincenzo, Carella, Massimo, Zelante, Leopoldo, Cavalli, Pietro, Poggiani, Carlo, Cavallari, Ugo, Argiropoulos, Bob, Chernos, Judy, Brasch-Andersen, Charlotte, Speevak, Marsha, Fichera, Marco, Ogilvie, Caroline Mackie, Shen, Yiping, Hodge, Jennelle C., Talkowski, Michael E., Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.

Volltext

The subtle facial signs of prenatal exposure to alcohol: An anthropometric approach von Moore, Elizabeth S., Ward, Richard E., Jamison, Paul L., Morris, Colleen A., Bader, Patricia I., Hall, Bryan D.

Volltext

New perspectives on the face in fetal alcohol syndrome: What anthropometry tells us von Moore, Elizabeth S., Ward, Richard E., Jamison, Paul L., Morris, Colleen A., Bader, Patricia I., Hall, Bryan D.

Volltext

Cloning and characterization of an inversion breakpoint at 6q23.3 suggests a role for Map7 in sacral dysgenesis von Sood, R., Bader, P.I., Speer, M.C., Edwards, Y.H., Eddings, E.M., Blair, R.T., Hu, P., Faruque, M.U., Robbins, C.M., Zhang, H., Leuders, J., Morrison, K., Thompson, D., Schwartzberg, P.L., Meltzer, P.S., Trent, J.M.

Volltext

Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene Biosynthesis von Hoffmann, Georg, Gibson, Kenneth M, Brandt, Ira K, Bader, Patricia I, Wappner, Rebecca S, Sweetman, Lawrence

Volltext

Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene von Ishibashi, M, Manning, E, Shoubridge, C, Krecsmarik, M, Hawkins, TA, Giacomotto, J, Zhao, T, Mueller, T, Bader, PI, Cheung, SW, Stankiewicz, P, Bain, NL, Hackett, A, Reddy, CC, Mechaly, AS, Peers, B, Wilson, SW, Lenhard, B, Bally-Cuif, L, Gecz, J, Becker, TS, Rinkwitz, S

Volltext bestellen

Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome von Gusella, James F, Tanzi, Rudolph E, Bader, Patricia I, Phelan, Mary C, Stevenson, Roger, Hayden, Michael R, Hofman, Karen J, Faryniarz, Anne G, Gibbons, Kerin

Volltext

Mevalonic aciduria: Family studies in mevalonate kinase deficiency, an inborn error of cholesterol biosynthesis von Gibson, K. M., Hoffmann, G., Nyhan, W. L., Sweetman, L., Brandt, I. K., Wappner, R. S., Bader, P. I.

Volltext

Lymphocyte capping in Duchenne muscular dystrophy von Bader, P I

Volltext

Legionnairesʼ disease. A review of clinical aspects of 18 sporadic cases von MAYOCK, PETER P., BADER, PATRICIA I.

Volltext

MÜLLERIAN AGENESIS, HYPOPLASIA OF DISTAL EXTREMITIES, UNUSUAL DERMATOGLYPHICS, AND PIGMENTATION von Bader, Patricia I, Keye, William R, Cowan, John T, Reed, T

Volltext

A multicenter investigation with interphase fluorescence in situ hybridization using X- and Y-chromosome probes von Dewald, Gordon, Stallard, Richard, Saadi, A. Al, Arnold, Susan, Bader, Patricia I., Blough, Ruthann, Chen, Kathy, Elejalde, B. Rafael, Harris, Catherine J., Higgins, Rodney R., Hoeltge, Gerald A., Hsu, Wei-Tong, Kubic, Virginia, McCorquodale, D. James, Micale, Mark A., Moore, J.W., Phillips, Rosalie M., Scheib-Wixted, Susan, Schwartz, Stuart, Siembieda, Steven, Strole, Kathy, VanTuinen, Peter, Vance, Gail H., Wiktor, Ann, Wise, Laura, Yung, Jar-Fee, Zenger-Hain, Julie, Zinsmeister, Alan

Volltext

Familial nephrotic syndrome von Bader, Patricia I., Grove, John, Trygstad, Carl W., Nance, Walter E.

Volltext

Toward quality assurance for metaphase FISH: A multi-center experience von Dewald, Gordon, Stallard, Richard, Bader, Patricia I., Chen, Kathy, Zenger-Hain, Julie, Harris, Catherine J., Higgins, Rodney, Hirsch, Betsy, Hsu, Wei-Tong, Johnson, Eric, Kubic, Virginia, Kurczynski, T. W., Malone, James M., McCorquodale, D. James, Meilinger, Karen, Meisner, Lorraine F., Moore, J. W., Schwartz, Stuart, Siembieda, Steven, Storto, Patrick D., Vance, Gail, Van Tuinen, Peter, Wiktor, Ann, Yung, Jar-Fee

Volltext

Toward quality assurance for metaphase FISH: A multicenter experience von Dewald, Gordon W., Stallard, Richard, Bader, Patricia I., Chen, Kathy, Zenger-Hain, Julie, Harris, Catherine J., Higgins, Rodney, Hirsch, Betsy, Hsu, Wei-Tong, Johnson, Eric, Kubic, Virginia, Kurczynski, T.W., Malone, James M., McCorquodale, D. James, Meilinger, Karen, Meisner, Lorraine F., Moore, J.W., Schwartz, Stuart, Siembieda, Steven, Storto, Patrick D., Vance, Gail, Tuinen, Peter Van, Wiktor, Ann, Yung, Jar-Fee

Volltext

Lymphocyte capping in limb-girdle muscular dystrophy: Patients and carriers in an amish isolate von Bader, Patricia I., Bender, Cynthia J., Creason, Marilyn T., Conn, Patricia S., Townsend, Douglas W.

Volltext

Neural tube defects in dup(11 q) von Bader, P. I., Haney, S. M., Munsick, R. A., Schubert, S. R., Hodes, M. E.

Volltext

Elevational trends in photosynthetic capacity and trait relationships of subtropical montane understorey bryophytes von Wang, Zhe, Pi, Chunyan, Bao, Weikai, Bader, Maaike Y.

Volltext

LOCALIZATION AND BROADBAND FOLLOW-UP OF THE GRAVITATIONAL-WAVE TRANSIENT GW 150914 von Abbott, BP, Axelsson, Magnus, Larsson, Stefan, Li, Liang, Zweizig, John G., et al

Volltext