Výsledky vyhledávání - Weaver, David D

The tricho-rhino-phalangeal syndrome Autor Weaver, David D., Cohen, M. Michael, Smith, David W.

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The discrimination of phenotypes for rate of disappearance of isonicotinoyl hydrazide from serum Autor Scott, Edward M., Wright, Rita C., Weaver, David D.

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Prader-Willi syndrome: Are there population differences? Autor Butler, Merlin G., Weaver, David D., Meaney, F. John

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Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression Autor Brault, Jennifer, Walsh, Laurence, Vance, Gail H., Weaver, David D.

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Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15 Autor Møller, Lisbeth Birk, Mogensen, Mie, Weaver, David D., Pedersen, Per Amstrup

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Cyclopia (Synophthalmia) in Smith-Lemli-Opitz Syndrome – First Reported Case and Consideration of Mechanism Autor Weaver, David D., Solomon, Benjamin D., Akin-Samson, Kelly, Kelley, Richard I., Muenke, Maximilian

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An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination Autor Peterman, Leia A., Vance, Gail H., Conboy, Erin E., Anderson, Katelynn, Weaver, David D.

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A Distinct X-Linked Syndrome Involving Joint Contractures, Keloids, Large Optic Cup-to-Disc Ratio, and Renal Stones Results From a Filamin A (FLNA) Mutation Autor Lah, Melissa, Niranjan, Tejasvi, Srikanth, Sujata, Holloway, Lynda, Schwartz, Charles E., Wang, Tao, Weaver, David D.

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Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling Autor Armstrong, Margaret E., Weaver, David D., Lah, Melissa D., Vance, Gail H., Landis, Benjamin J., Ware, Stephanie M., Helm, Benjamin M.

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Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features Autor Traub, Eric S., Sheppard, Sarah E., Dori, Yoav, Burns, Katelyn D., Zackai, Elaine H., Ware, Stephanie M., Landis, Benjamin J., Li, Dong, Weaver, David D.

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Mutations in EZH2 Cause Weaver Syndrome Autor Gibson, William T., Hood, Rebecca L., Zhan, Shing Hei, Bulman, Dennis E., Fejes, Anthony P., Moore, Richard, Mungall, Andrew J., Eydoux, Patrice, Babul-Hirji, Riyana, An, Jianghong, Marra, Marco A., Chitayat, David, Boycott, Kym M., Weaver, David D., Jones, Steven J.M.

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Weaver Syndrome‐Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro Autor Cohen, Ana S.A., Yap, Damian B., Lewis, M.E. Suzanne, Chijiwa, Chieko, Ramos‐Arroyo, Maria A., Tkachenko, Natália, Milano, Valentina, Fradin, Mélanie, McKinnon, Margaret L., Townsend, Katelin N., Xu, Jieqing, Van Allen, M.I., Ross, Colin J.D., Dobyns, William B., Weaver, David D., Gibson, William T.

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Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes Autor Rosenfeld, Jill A, Stephens, Lindsey E, Coppinger, Justine, Ballif, Blake C, Hoo, Joe J, French, Beatrice N, Banks, Valerie C, Smith, Wendy E, Manchester, David, Tsai, Anne Chun-Hui, Merrion, Katrina, Mendoza-Londono, Roberto, Dupuis, Lucie, Schultz, Roger, Torchia, Beth, Sahoo, Trilochan, Bejjani, Bassem, Weaver, David D, Shaffer, Lisa G

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Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1 Autor Jorgez, Carolina J., Rosenfeld, Jill A., Wilken, Nathan R., Vangapandu, Hima V., Sahin, Aysegul, Pham, Dung, Carvalho, Claudia M. B., Bandholz, Anne, Miller, Amanda, Weaver, David D., Burton, Barbara, Babu, Deepti, Bamforth, John S., Wilks, Timothy, Flynn, Daniel P., Roeder, Elizabeth, Patel, Ankita, Cheung, Sau W., Lupski, James R., Lamb, Dolores J.

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Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region Autor Coppinger, Justine, McDonald-McGinn, Donna, Zackai, Elaine, Shane, Kate, Atkin, Joan F., Asamoah, Alexander, Leland, Robert, Weaver, David D., Lansky-Shafer, Susan, Schmidt, Karen, Feldman, Heidi, Cohen, William, Phalin, Judy, Powell, Berkley, Ballif, Blake C., Theisen, Aaron, Geiger, Elizabeth, Haldeman-Englert, Chad, Shaikh, Tamim H., Saitta, Sulagna, Bejjani, Bassem A., Shaffer, Lisa G.

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Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia Autor Gordon, Christopher T., Weaver, K. Nicole, Zechi-Ceide, Roseli Maria, Madsen, Erik C., Tavares, Andre L.P., Oufadem, Myriam, Kurihara, Yukiko, Adameyko, Igor, Picard, Arnaud, Breton, Sylvain, Pierrot, Sébastien, Biosse-Duplan, Martin, Voisin, Norine, Masson, Cécile, Bole-Feysot, Christine, Nitschké, Patrick, Delrue, Marie-Ange, Lacombe, Didier, Guion-Almeida, Maria Leine, Moura, Priscila Padilha, Garib, Daniela Gamba, Munnich, Arnold, Ernfors, Patrik, Hufnagel, Robert B., Hopkin, Robert J., Kurihara, Hiroki, Saal, Howard M., Weaver, David D., Katsanis, Nicholas, Lyonnet, Stanislas, Golzio, Christelle, Clouthier, David E., Amiel, Jeanne

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 Autor McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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A dyadic approach to the delineation of diagnostic entities in clinical genomics Autor 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. Autor 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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A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay Autor Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.

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