检索结果 - Manchester, David

Staff-reported antecedents to aggression in a post-acute brain injury treatment programme: What are they and what implications do they have for treatment? 由 Giles, Gordon Muir, Scott, Karen, Manchester, David

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Importance of the Clinical Recognition of Loeys-Dietz Syndrome in the Neonatal Period 由 Yetman, Anji T., Beroukhim, Rebecca S., Ivy, Dunbar D., Manchester, David

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An outbreak of rotavirus-associated neonatal necrotizing enterocolitis() 由 Rotbart, Harley A., Levin, Myron J., Yolken, Robert H., Manchester, David K., Jantzen, James

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Clinical Course of Fetal Hydrocephalus: 40 Cases 由 Pretorius, Dolores H., Davis, Kathleen, Manco-Johnson, Michael L., Manchester, David, Meier, Paul R., Clewell, William H.

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Case report of myometrial window following fetoscopic treatment of twin‐twin transfusion syndrome: indications of underlying collagen vascular disease? 由 Zaretsky, Michael V., Manchester, David K., Galan, Henry L., Behrendt, Nicholas J., Marwan, Ahmed I., Liechty, Kenneth W., Crombleholme, Timothy M.

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Assessment of Multiple Types of DNA Damage in Human Placentas from Smoking and Non-smoking Women in the Czech Republic 由 Margaret Pratt, M., King, Leon C., Adams, Linda D., John, Kaarthik, Sirajuddin, Paul, Olivero, Ofelia A., Manchester, David K., Sram, Radim J., DeMarini, David M., Poirier, Miriam C.

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Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes 由 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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Harnessing genomics to identify environmental determinants of heritable disease 由 Yauk, Carole Lyn, Argueso, J. Lucas, Auerbach, Scott S., Awadalla, Philip, Davis, Sean R., DeMarini, David M., Douglas, George R., Dubrova, Yuri E., Elespuru, Rosalie K., Glover, Thomas W., Hales, Barbara F., Hurles, Matthew E., Klein, Catherine B., Lupski, James R., Manchester, David K., Marchetti, Francesco, Montpetit, Alexandre, Mulvihill, John J., Robaire, Bernard, Robbins, Wendie A., Rouleau, Guy A., Shaughnessy, Daniel T., Somers, Christopher M., Taylor, James G., Trasler, Jacquetta, Waters, Michael D., Wilson, Thomas E., Witt, Kristine L., Bishop, Jack B.

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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy 由 Cullup, Thomas, Kho, Ay L., Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A., Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F., Wijburg, Frits A., Hoedt, Amber E. ten, Rogers, Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M., Windpassinger, Christian, Filloux, Francis M., Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A., Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features 由 Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Al Balwi, Mohammed, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Al Shamsi, Aisha, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Pawel

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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations 由 Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, Raoul C. M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.

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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy 由 Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz

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Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing 由 Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R.C., Zaki, Maha S., Grainger, Stephanie L., Sathe, Shashank, Van Nostrand, Eric L., Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L., Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H., de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Kibaek, Maria, Aldinger, Kimberley A., Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B., Chi, Neil, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G.

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