Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially von Luo, Xi, Rosenfeld, Jill A, Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J, Pastore, Matthew T, Bartholomew, Dennis, Delgado, Mauricio R, Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A, Eldomery, Mohammad K, Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R, Lotze, Timothy, Lupski, James R, Lee, Brendan, Bellen, Hugo J, Wangler, Michael F

Volltext

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine von Gahl, William A., Mulvihill, John J., Toro, Camilo, Markello, Thomas C., Wise, Anastasia L., Ramoni, Rachel B., Adams, David R., Tifft, Cynthia J.

Volltext

The Undiagnosed Diseases Network as a Tool for Graduate Medical Education von Aday, Aaron W., Krier, Joel B., Pallais, J. Carl, Fieg, Elizabeth L., MacRae, Calum A., Loscalzo, Joseph

Volltext

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency von Davids, Mariska, Menezes, Minal, Guo, Yiran, McLean, Scott D., Hakonarson, Hakon, Collins, Felicity, Worgan, Lisa, Billington, Charles J., Maric, Irina, Littlejohn, Rebecca Okashah, Onyekweli, Tito, Members of the UDN, Adams, David R., Tifft, Cynthia J., Gahl, William A., Wolfe, Lynne A., Christodoulou, John, Malicdan, May Christine V.

Volltext

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development von Bashamboo, Anu, Donohoue, Patricia A, Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N, Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A, Mulukutla, Surya Narayan, Jain, Mahim, Burrage, Lindsay, Dhar, Shweta, Balasubramanyam, Ashok, Lee, Brendan, Dumargne, Marie-Charlotte, Eozenou, Caroline, Suntharalingham, Jenifer P, de Silva, Ksh, Lin, Lin, Bignon-Topalovic, Joelle, Poulat, Francis, Lagos, Carlos F, McElreavey, Ken, Achermann, John C

Volltext

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development von Bashamboo, Anu, Donohoue, Patricia A, Vilain, Eric, Rojo, Sandra, Calvel, Pierre, Seneviratne, Sumudu N, Buonocore, Federica, Barseghyan, Hayk, Bingham, Nathan, Rosenfeld, Jill A, Mulukutla, Surya Narayan, Jain, Mahim, Burrage, Lindsay, Dhar, Shweta, Balasubramanyam, Ashok, Lee, Brendan, Dumargne, Marie-Charlotte, Eozenou, Caroline, Suntharalingham, Jenifer P, de Silva, Ksh, Lin, Lin, Bignon-Topalovic, Joelle, Poulat, Francis, Lagos, Carlos F, McElreavey, Ken, Achermann, John C

Volltext

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research von Wangler, Michael F, Yamamoto, Shinya, Chao, Hsiao-Tuan, Posey, Jennifer E, Westerfield, Monte, Postlethwait, John, Hieter, Philip, Boycott, Kym M, Campeau, Philippe M, Bellen, Hugo J

Volltext

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy von Bhatia, Aashim, Mobley, Bret C., Koziura, Mary E., Phillips, John, Moore, Steven A., Alvey, Justin, Ashley, Euan A., Balasubramanyam, Ashok, Barbouth, Deborah, Beggs, Alan H., Bejerano, Gill, Berry, Gerard T., Bican, Anna, Birch, Camille L., Bonnenmann, Carsten, Botto, Lorenzo, Brokamp, Elly, Brown, Donna M., Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Cope, Heidi, Craigen, William J., Davids, Mariska, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Eckstein, David J., Emrick, Lisa T., Fogel, Brent L., Godfrey, Rena A., Hamid, Rizwan, High, Frances, Holm, Ingrid A., Jamal, Fariha, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kiley, Dana, Koeller, David M., Kohler, Jennefer N., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lam, Byron, Lanpher, Brendan C., Lazar, Jozef, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Liu, Xue Zhong, Loo, Sandra K., MacRae, Calum A., Manolio, Teri A., Markello, Thomas C., Marth, Gabor, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., Morava-Kozicz, Eva, Morimoto, Marie, Mulvihill, John J., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Orengo, James P., Phillips, John A., Quinlan, Aaron, Renteria, Genecee, Robertson, Amy K., Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Urv, Tiina K., Velinder, Matt, Walley, Nicole M., Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wheeler, Matthew T., Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli

Volltext

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development von Bashamboo, A, Donohoue, PA, Vilain, E, Rojo, S, Calvel, P, Seneviratne, SN, Buonocore, F, Barseghyan, H, Bingham, N, Rosenfeld, JA, Mulukutla, SN, Jain, M, Burrage, L, Dhar, S, Balasubramanyam, A, Lee, B, Members of UDN, Dumargne, MC, Eozenou, C, Suntharalingham, JP, de Silva, K, Lin, L, Bignon-Topalovic, J, Poulat, F, Lagos, CF, McElreavey, K, Achermann, JC

Volltext bestellen