Resultados de procura - McLeod, D Ross

Molecular Genetics for the Clinician por McLeod, D. Ross

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Medical Genetics: Principles and Practice por McLeod, D. Ross

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Metacarpophalangeal Pattern Profile Analysis in Williams Syndrome por Burns, Michele A., McLeod, D. Ross, Linton, L. R., Butler, Merlin G.

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Metacarpophalangeal Pattern Profile Analysis in Fragile X Syndrome por Butler, Merlin G., Fletcher, Mark, Gale, David D., Meaney, F. John, McLeod, D. Ross, Fagan, Joel, Carpenter, Nancy J.

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Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification por Boycott, Kym M., Flavelle, Shauna, Bureau, Alexandre, Glass, Hannah C., Fujiwara, T. Mary, Wirrell, Elaine, Davey, Krista, Chudley, Albert E., Scott, James N., McLeod, D. Ross, Parboosingh, Jillian S.

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Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems por Williams, Stephen R., Aldred, Micheala A., Der Kaloustian, Vazken M., Halal, Fahed, Gowans, Gordon, McLeod, D. Ross, Zondag, Sara, Toriello, Helga V., Magenis, R. Ellen, Elsea, Sarah H.

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A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America por Loucks, Catrina, Parboosingh, Jillian S., Chong, Jessica X., Ober, Carole, Siu, Victoria M., Hegele, Robert A., Rupar, C. Anthony, McLeod, D. Ross, Pinto, Alfredo, Chudley, Albert E., Innes, A. Micheil

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Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies por Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil

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Intellectual disability associated with a homozygous missense mutation in THOC6 por Beaulieu, Chandree L, Huang, Lijia, Innes, A Micheil, Akimenko, Marie-Andree, Puffenberger, Erik G, Schwartz, Charles, Jerry, Paul, Ober, Carole, Hegele, Robert A, McLeod, D Ross, Schwartzentruber, Jeremy, Majewski, Jacek, Bulman, Dennis E, Parboosingh, Jillian S, Boycott, Kym M

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Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome por Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., McLeod, D. Ross, Kirk, Edwin P., Hoover-Fong, Julie, Fleming, Leah, Savarirayan, Ravi, Majewski, Jacek, Jerome-Majewska, Loydie A., Parboosingh, Jillian S., Bernier, Francois P.

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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome por Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.

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Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability por Bögershausen, Nina, Shahrzad, Nassim, Chong, Jessica X., von Kleist-Retzow, Jürgen-Christoph, Stanga, Daniela, Li, Yun, Bernier, Francois P., Loucks, Catrina M., Wirth, Radu, Puffenberger, Eric G., Hegele, Robert A., Schreml, Julia, Lapointe, Gabriel, Keupp, Katharina, Brett, Christopher L., Anderson, Rebecca, Hahn, Andreas, Innes, A. Micheil, Suchowersky, Oksana, Mets, Marilyn B., Nürnberg, Gudrun, McLeod, D. Ross, Thiele, Holger, Waggoner, Darrel, Altmüller, Janine, Boycott, Kym M., Schoser, Benedikt, Nürnberg, Peter, Ober, Carole, Heller, Raoul, Parboosingh, Jillian S., Wollnik, Bernd, Sacher, Michael, Lamont, Ryan E.

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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? por Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J Marietta, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D Ross, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C Nur, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F

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TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone por Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Müller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nürnberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A., Boycott, Kym M.

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome por Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez-Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul-Rahman, Omar, Alkuraya, Fowzan S., Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary-Alice, Allain, Dawn C., Amlie-Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin-To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah K., Johnson, Amy E. Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell-Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J., Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero-Rivera, Fabiola

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