نتائج البحث - Hiatt, Susan M.

Bimolecular fluorescence complementation (BiFC) analysis of protein interactions in Caenorhabditis elegans حسب Hiatt, Susan M., Shyu, Y. John, Duren, Holli M., Hu, Chang-Deng

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Caenorhabditis elegans FOS-1 and JUN-1 Regulate plc-1 Expression in the Spermatheca to Control Ovulation حسب Hiatt, Susan M., Duren, Holli M., Shyu, Y. John, Ellis, Ronald E., Hisamoto, Naoki, Matsumoto, Kunihiro, Kariya, Ken-ichi, Kerppola, Tom K., Hu, Chang-Deng

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway حسب Popov, Ivan K., Hiatt, Susan M., Whalen, Sandra, Keren, Boris, Ruivenkamp, Claudia, van Haeringen, Arie, Chen, Mei-Jan, Cooper, Gregory M., Korf, Bruce R., Chang, Chenbei

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders حسب Hiatt, Susan M., Lawlor, James M.J., Handley, Lori H., Ramaker, Ryne C., Rogers, Brianne B., Partridge, E. Christopher, Boston, Lori Beth, Williams, Melissa, Plott, Christopher B., Jenkins, Jerry, Gray, David E., Holt, James M., Bowling, Kevin M., Bebin, E. Martina, Grimwood, Jane, Schmutz, Jeremy, Cooper, Gregory M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy حسب Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grange, Pierre, Ferrand-Sorbets, Sarah, Dorfmüller, Georg, Lambrecq, Virginie, Larsen, Line H.G., Leguern, Eric, Guerrini, Renzo, Rubboli, Guido, Cooper, Gregory M., Baulac, Stéphanie

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder حسب Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Genomic sequencing identifies secondary findings in a cohort of parent study participants حسب Thompson, Michelle L., Finnila, Candice R., Bowling, Kevin M., Brothers, Kyle B., Neu, Matthew B., Amaral, Michelle D., Hiatt, Susan M., East, Kelly M., Gray, David E., Lawlor, James M.J., Kelley, Whitley V., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Levy, Shawn E., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Genomic diagnosis for children with intellectual disability and/or developmental delay حسب Bowling, Kevin M., Thompson, Michelle L., Amaral, Michelle D., Finnila, Candice R., Hiatt, Susan M., Engel, Krysta L., Cochran, J. Nicholas, Brothers, Kyle B., East, Kelly M., Gray, David E., Kelley, Whitley V., Lamb, Neil E., Lose, Edward J., Rich, Carla A., Simmons, Shirley, Whittle, Jana S., Weaver, Benjamin T., Nesmith, Amy S., Myers, Richard M., Barsh, Gregory S., Bebin, E. Martina, Cooper, Gregory M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Systematic reanalysis of genomic data improves quality of variant interpretation حسب Hiatt, Susan M., Amaral, Michelle D., Bowling, Kevin M., Finnila, Candice R., Thompson, Michelle L., Gray, David E., Lawlor, James M.J., Cochran, J. Nicholas, Bebin, E. Martina, Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Lamb, Neil E., Levy, Shawn E., Lose, Edward J., Neu, Matthew B., Rich, Carla A., Simmons, Shirley, Myers, Richard M., Barsh, Gregory S., Cooper, Gregory M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability and autism spectrum disorder حسب Scott, Tiana M., Guo, Hui, Eichler, Evan E., Rosenfeld, Jill A., Pang, Kaifang, Liu, Zhandong, Lalani, Seema, Weimin, Bi, Yang, Yaping, Bacino, Carlos A., Streff, Haley, Lewis, Andrea M., Koenig, Mary K., Thiffault, Isabelle, Bellomo, Allison, Everman, David B., Jones, Julie R., Stevenson, Roger E., Bernier, Raphael, Gilissen, Christian, Pfundt, Rolph, Hiatt, Susan M., Cooper, Gregory M., Holder, Jimmy L., Scott, Daryl A.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

RefSeq: an update on mammalian reference sequences حسب Pruitt, Kim D., Brown, Garth R., Hiatt, Susan M., Thibaud-Nissen, Françoise, Astashyn, Alexander, Ermolaeva, Olga, Farrell, Catherine M., Hart, Jennifer, Landrum, Melissa J., McGarvey, Kelly M., Murphy, Michael R., O’Leary, Nuala A., Pujar, Shashikant, Rajput, Bhanu, Rangwala, Sanjida H., Riddick, Lillian D., Shkeda, Andrei, Sun, Hanzhen, Tamez, Pamela, Tully, Raymond E., Wallin, Craig, Webb, David, Weber, Janet, Wu, Wendy, DiCuccio, Michael, Kitts, Paul, Maglott, Donna R., Murphy, Terence D., Ostell, James M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay حسب Hiatt, Susan M., Neu, Matthew B., Ramaker, Ryne C., Hardigan, Andrew A., Prokop, Jeremy W., Hancarova, Miroslava, Prchalova, Darina, Havlovicova, Marketa, Prchal, Jan, Stranecky, Viktor, Yim, Dwight K. C., Powis, Zöe, Keren, Boris, Nava, Caroline, Mignot, Cyril, Rio, Marlene, Revah-Politi, Anya, Hemati, Parisa, Stong, Nicholas, Iglesias, Alejandro D., Suchy, Sharon F., Willaert, Rebecca, Wentzensen, Ingrid M., Wheeler, Patricia G., Brick, Lauren, Kozenko, Mariya, Hurst, Anna C. E., Wheless, James W., Lacassie, Yves, Myers, Richard M., Barsh, Gregory S., Sedlacek, Zdenek, Cooper, Gregory M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism حسب Harms, Frederike Leonie, Girisha, Katta M., Hardigan, Andrew A., Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M., Ceulemans, Sophia, Bebin, Martina, Bowling, Kevin M., Hiatt, Susan M., Lose, Edward J., Primiano, Michelle, Chung, Wendy K., Juusola, Jane, Akdemir, Zeynep C., Bainbridge, Matthew, Charng, Wu-Lin, Drummond-Borg, Margaret, Eldomery, Mohammad K., El-Hattab, Ayman W., Saleh, Mohammed A.M., Bézieau, Stéphane, Cogné, Benjamin, Isidor, Bertrand, Küry, Sébastien, Lupski, James R., Myers, Richard M., Cooper, Gregory M., Kutsche, Kerstin

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder حسب Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience حسب Porter, Kathryn M., Kauffman, Tia L., Koenig, Barbara A., Lewis, Katie L., Rehm, Heidi L., Richards, Carolyn Sue, Strande, Natasha T., Tabor, Holly K., Wolf, Susan M., Yang, Yaping, Amendola, Laura M., Azzariti, Danielle R., Berg, Jonathan S., Bergstrom, Katie, Biesecker, Leslie G., Biswas, Sawona, Bowling, Kevin M., Chung, Wendy K., Clayton, Ellen W., Conlin, Laura K., Cooper, Gregory M., Dulik, Matthew C., Garraway, Levi A., Ghazani, Arezou A., Green, Robert C., Hiatt, Susan M., Jamal, Seema M., Jarvik, Gail P., Goddard, Katrina A. B., Wilfond, Benjamin S.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Current status and new features of the Consensus Coding Sequence database حسب Farrell, Catherine M., O’Leary, Nuala A., Harte, Rachel A., Loveland, Jane E., Wilming, Laurens G., Wallin, Craig, Diekhans, Mark, Barrell, Daniel, Searle, Stephen M. J., Aken, Bronwen, Hiatt, Susan M., Frankish, Adam, Suner, Marie-Marthe, Rajput, Bhanu, Steward, Charles A., Brown, Garth R., Bennett, Ruth, Murphy, Michael, Wu, Wendy, Kay, Mike P., Hart, Jennifer, Rajan, Jeena, Weber, Janet, Snow, Catherine, Riddick, Lillian D., Hunt, Toby, Webb, David, Thomas, Mark, Tamez, Pamela, Rangwala, Sanjida H., McGarvey, Kelly M., Pujar, Shashikant, Shkeda, Andrei, Mudge, Jonathan M., Gonzalez, Jose M., Gilbert, James G. R., Trevanion, Stephen J., Baertsch, Robert, Harrow, Jennifer L., Hubbard, Tim, Ostell, James M., Haussler, David, Pruitt, Kim D.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations حسب Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W, Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R., Pagnamenta, Alistair, Wenninger-Weinzier, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C, Terrone, Gaetano, Vitiello, Giuseppina, Giudice, Ennio Del, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A., Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A., Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M., Cooper, Gregory M., Aldinger, Kimberly A, Dobyns, William B, Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J., Keays, David Anthony

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Genome sequencing as a first-line diagnostic test for hospitalized infants حسب Bowling, Kevin M., Thompson, Michelle L., Finnila, Candice R., Hiatt, Susan M., Latner, Donald R., Amaral, Michelle D., Lawlor, James M.J., East, Kelly M., Cochran, Meagan E., Greve, Veronica, Kelley, Whitley V., Gray, David E., Felker, Stephanie A., Meddaugh, Hannah, Cannon, Ashley, Luedecke, Amanda, Jackson, Kelly E., Hendon, Laura G., Janani, Hillary M., Johnston, Marla, Merin, Lee Ann, Deans, Sarah L., Tuura, Carly, Williams, Heather, Laborde, Kelly, Neu, Matthew B., Patrick-Esteve, Jessica, Hurst, Anna C.E., Kandasamy, Jegen, Carlo, Wally, Brothers, Kyle B., Kirmse, Brian M., Savich, Renate, Superneau, Duane, Spedale, Steven B., Knight, Sara J., Barsh, Gregory S., Korf, Bruce R., Cooper, Gregory M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size حسب Le Duc, Diana, Giulivi, Cecilia, Hiatt, Susan M, Napoli, Eleonora, Panoutsopoulos, Alexios, Harlan De Crescenzo, Angelo, Kotzaeridou, Urania, Syrbe, Steffen, Anagnostou, Evdokia, Azage, Meron, Bend, Renee, Begtrup, Amber, Brown, Natasha J, Büttner, Benjamin, Cho, Megan T, Cooper, Gregory M, Doering, Jan H, Dubourg, Christèle, Everman, David B, Hildebrand, Michael S, Santos, Francis Jeshira Reynoso, Kellam, Barbara, Keller-Ramey, Jennifer, Lemke, Johannes R, Liu, Shuxi, Niyazov, Dmitriy, Payne, Katelyn, Person, Richard, Quélin, Chloé, Schnur, Rhonda E, Smith, Brooke T, Strober, Jonathan, Walker, Susan, Wallis, Mathew, Walsh, Laurence, Yang, Sandra, Yuen, Ryan K C, Ziegler, Andreas, Sticht, Heinrich, Pride, Michael C, Orosco, Lori, Martínez-Cerdeño, Verónica, Silverman, Jill L, Crawley, Jacqueline N, Scherer, Stephen W, Zarbalis, Konstantinos S, Jamra, Rami

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature حسب Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل