檢索結果 - Clark, Robin D

Behavioral Features in Young Adults with FG Syndrome (Opitz-Kaveggia Syndrome) 由 Graham, John M, Clark, Robin D, Moeschler, John B, Rogers, R. Curtis

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Selective Glucocorticoid Receptor (GR-II) Antagonist Reduces Body Weight Gain in Mice 由 Asagami, Tomoko, Belanoff, Joseph K., Azuma, Junya, Blasey, Christine M., Clark, Robin D., Tsao, Philip S.

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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma 由 Deml, Brett, Reis, Linda M, Lemyre, Emmanuelle, Clark, Robin D, Kariminejad, Ariana, Semina, Elena V

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SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly 由 Stokes, Bethany, Berger, Seth I., Hall, Beth A., Weiss, Karin, Hadley, Donald W., Murdock, David R., Ramanathan, Subhadra, Clark, Robin D., Roessler, Erich, Kruszka, Paul, Muenke, Maximilian

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Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy 由 Ramser, Juliane, Ahearn, Mary Ellen, Lenski, Claus, Yariz, Kemal O., Hellebrand, Heide, von Rhein, Michael, Clark, Robin D., Schmutzler, Rita K., Lichtner, Peter, Hoffman, Eric P., Meindl, Alfons, Baumbach-Reardon, Lisa

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Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development 由 Urban, Zsolt, Hucthagowder, Vishwanathan, Schürmann, Nura, Todorovic, Vesna, Zilberberg, Lior, Choi, Jiwon, Sens, Carla, Brown, Chester W., Clark, Robin D., Holland, Kristen E., Marble, Michael, Sakai, Lynn Y., Dabovic, Branka, Rifkin, Daniel B., Davis, Elaine C.

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Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene 由 Graham, John M, Visootsak, Jeannie, Dykens, Elisabeth, Huddleston, Lillie, Clark, Robin D, Jones, Kenneth L, Moeschler, John B, Opitz, John M, Morford, Jackie, Simensen, Richard, Rogers, R. Curtis, Schwartz, Charles E, Friez, Michael J, Stevenson, Roger E

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Mutations in ANKLE2, a ZIKA virus target, disrupt an asymmetric cell division pathway in Drosophila neuroblasts to cause microcephaly. 由 Link, Nichole, Chung, Hyunglok, Jolly, Angad, Withers, Marjorie, Tepe, Burak, Arenkiel, Benjamin R., Shah, Priya S., Krogan, Nevan J., Aydin, Hatip, Geckinli, Bilgen B., Tos, Tulay, Isikay, Sedat, Tuysuz, Beyhan, Mochida, Ganesh H., Thomas, Ajay X., Clark, Robin D., Mirzaa, Ghayda M., Lupski, James R., Bellen, Hugo J.

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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients 由 Ensenauer, Regina E., Adeyinka, Adewale, Flynn, Heather C., Michels, Virginia V., Lindor, Noralane M., Dawson, D. Brian, Thorland, Erik C., Lorentz, Cindy Pham, Goldstein, Jennifer L., McDonald, Marie T., Smith, Wendy E., Simon-Fayard, Elba, Alexander, Alan A., Kulharya, Anita S., Ketterling, Rhett P., Clark, Robin D., Jalal, Syed M.

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Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability 由 Kleefstra, Tjitske, Kramer, Jamie M., Neveling, Kornelia, Willemsen, Marjolein H., Koemans, Tom S., Vissers, Lisenka E.L.M., Wissink-Lindhout, Willemijn, Fenckova, Michaela, van den Akker, Willem M.R., Kasri, Nael Nadif, Nillesen, Willy M., Prescott, Trine, Clark, Robin D., Devriendt, Koenraad, van Reeuwijk, Jeroen, de Brouwer, Arjan P.M., Gilissen, Christian, Zhou, Huiqing, Brunner, Han G., Veltman, Joris A., Schenck, Annette, van Bokhoven, Hans

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A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases 由 Yamamoto, Shinya, Jaiswal, Manish, Charng, Wu-Lin, Gambin, Tomasz, Karaca, Ender, Mirzaa, Ghayda, Wiszniewski, Wojciech, Sandoval, Hector, Haelterman, Nele A., Xiong, Bo, Zhang, Ke, Bayat, Vafa, David, Gabriela, Li, Tongchao, Chen, Kuchuan, Gala, Upasana, Harel, Tamar, Pehlivan, Davut, Penney, Samantha, Vissers, Lisenka E. L. M., de Ligt, Joep, Jhangiani, Shalini, Xie, Yajing, Tsang, Stephen H., Parman, Yesim, Sivaci, Merve, Battaloglu, Esra, Muzny, Donna, Wan, Ying-Wooi, Liu, Zhandong, Lin-Moore, Alexander T., Clark, Robin D., Curry, Cynthia J., Link, Nichole, Schulze, Karen L., Boerwinkle, Eric, Dobyns, William B., Allikmets, Rando, Gibbs, Richard A., Chen, Rui, Lupski, James R., Wangler, Michael F., Bellen, Hugo J.

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A dyadic approach to the delineation of diagnostic entities in clinical genomics 由 Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

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Response to Hamosh et al. 由 Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

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Cornelia de Lange Syndrome in Diverse Populations 由 Dowsett, Leah, Porras, Antonio R., Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow-Keong, Leon, Eyby, Girisha, Katta M., Shukla, Anju, Nayak, Shalini S., Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D., Dissanayake, Vajira H.W., Ferreira, Carlos R., Kisling, Monisha S., Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo-Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti-Ferreira, Danilo, Stevenson, Roger E., Prijoles, Eloise J., Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hasama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D., Bird, Lynne, Masser-Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane-Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D.

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