Hakutulokset - Armstrong, Linlea

The identification of Lynch syndrome in British Columbia Tekijä Cremin, Carol M, Armstrong, Linlea, Gill, Sharlene, Huntsman, David, Bajdik, Chris

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Lynch syndrome-chasing a better ascertainment rate in British Columbia Tekijä Cremin, Carol, Bashash, Morteza, Armstrong, Linlea, Gill, Sharlene, Huntsman, David, Bajdik, Chris

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The Orthopaedic Management of Human Disorganization Syndrome Tekijä Smit, Kevin, So, Judy, Schaeffer, Emily, Armstrong, Linlea, Verchere, Cindy, Mulpuri, Kishore

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Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers Tekijä Pataky, Reka, Armstrong, Linlea, Chia, Stephen, Coldman, Andrew J, Kim-Sing, Charmaine, McGillivray, Barbara, Scott, Jenna, Wilson, Christine M, Peacock, Stuart

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The Use of Anterolateral Bowing of the Lower Leg in the Diagnostic Criteria for Neurofibromatosis Type 1 Tekijä Stevenson, David A., Viskochil, David H., Schorry, Elizabeth K., Crawford, Alvin H., D’Astous, Jacques, Murray, Kathleen A., Friedman, J. M., Armstrong, Linlea, Carey, John C.

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Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications Tekijä Cook, Courtney B., Armstrong, Linlea, Boerkoel, Cornelius F., Clarke, Lorne A., du Souich, Christèle, Demos, Michelle K., Gibson, William T., Gill, Harinder, Lopez, Elena, Patel, Millan S., Selby, Kathryn, Abu-Sharar, Ziad, Elliott, Alison M., Friedman, Jan M.

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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1 Tekijä Chan, Wai-Man, Andrews, Caroline, Dragan, Laryssa, Fredrick, Douglas, Armstrong, Linlea, Lyons, Christopher, Geraghty, Michael T, Hunter, David G, Yazdani, Ahmad, Traboulsi, Elias I, Pott, Jan WR, Gutowski, Nicholas J, Ellard, Sian, Young, Elizabeth, Hanisch, Frank, Koc, Feray, Schnall, Bruce, Engle, Elizabeth C

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Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability Tekijä Zahir, Farah R., Mwenifumbo, Jill C., Chun, Hye-Jung E., Lim, Emilia L., Van Karnebeek, Clara D. M., Couse, Madeline, Mungall, Karen L., Lee, Leora, Makela, Nancy, Armstrong, Linlea, Boerkoel, Cornelius F., Langlois, Sylvie L., McGillivray, Barbara M., Jones, Steven J. M., Friedman, Jan M., Marra, Marco A.

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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome Tekijä Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King, Mary D., Cox, Helen, Armstrong, Linlea, Lehman, Anna, Nelson, Tanya N., Williams, Jonathan, Clouston, Penny, Hagman, James, Németh, Andrea H.

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Mutations in the human GlyT2 gene define a presynaptic component of human startle disease Tekijä Rees, Mark I., Harvey, Kirsten, Pearce, Brian R., Chung, Seo-Kyung, Duguid, Ian C., Thomas, Philip, Beatty, Sarah, Graham, Gail E., Armstrong, Linlea, Shiang, Rita, Abbott, Kim J., Zuberi, Sameer M., Stephenson, John B.P., Owen, Michael J., Tijssen, Marina A.J., van den Maagdenberg, Arn M.J.M., Smart, Trevor G., Supplisson, Stéphane, Harvey, Robert J.

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Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology Tekijä Dixon, Katherine, Young, Sean, Shen, Yaoqing, Thibodeau, My Linh, Fok, Alexandra, Pleasance, Erin, Zhao, Eric, Jones, Martin, Aubert, Geraldine, Armstrong, Linlea, Virani, Alice, Regier, Dean, Gelmon, Karen, Renouf, Dan, Chia, Stephen, Bosdet, Ian, Rassekh, S Rod, Deyell, Rebecca J, Yip, Stephen, Fisic, Ana, Titmuss, Emma, Abadi, Shirin, Jones, Steven J M, Sun, Sophie, Karsan, Aly, Marra, Marco, Laskin, Janessa, Lim, Howard, Schrader, Kasmintan A

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Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization Tekijä Friedman, JM, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, MacLeod, Patrick, Mathers, Joan, Michaud, Jacques L, McGillivray, Barbara C, Patel, Millan S, Qian, Hong, Rouleau, Guy A, Van Allen, Margot I, Yong, Siu-Li, Zahir, Farah R, Eydoux, Patrice, Marra, Marco A

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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas Tekijä Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M

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Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation Tekijä Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Tekijä Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.

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Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations Tekijä 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

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Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study Tekijä Elliott, Alison M., Adam, Shelin, du Souich, Christèle, Lehman, Anna, Nelson, Tanya N., van Karnebeek, Clara, Alderman, Emily, Armstrong, Linlea, Aubertin, Gudrun, Blood, Katherine, Boelman, Cyrus, Boerkoel, Cornelius, Bretherick, Karla, Brown, Lindsay, Chijiwa, Chieko, Clarke, Lorne, Couse, Madeline, Creighton, Susan, Watts-Dickens, Abby, Gibson, William T., Gill, Harinder, Tarailo-Graovac, Maja, Hamilton, Sara, Heran, Harindar, Horvath, Gabriella, Huang, Lijia, Hulait, Gurdip K., Koehn, David, Lee, Hyun Kyung, Lewis, Suzanne, Lopez, Elena, Louie, Kristal, Niederhoffer, Karen, Matthews, Allison, Meagher, Kirsten, Peng, Junran J., Patel, Millan S., Race, Simone, Richmond, Phillip, Rupps, Rosemarie, Salvarinova, Ramona, Seath, Kimberly, Selby, Kathryn, Steinraths, Michelle, Stockler, Sylvia, Tang, Kaoru, Tyson, Christine, van Allen, Margot, Wasserman, Wyeth, Mwenifumbo, Jill, Friedman, Jan M.

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Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes Tekijä Goudie, Catherine, Witkowski, Leora, Cullinan, Noelle, Reichman, Lara, Schiller, Ian, Tachdjian, Melissa, Armstrong, Linlea, Blood, Katherine A., Brossard, Josée, Brunga, Ledia, Cacciotti, Chantel, Caswell, Kimberly, Cellot, Sonia, Clark, Mary Egan, Clinton, Catherine, Coltin, Hallie, Felton, Kathleen, Fernandez, Conrad V., Fleming, Adam J., Fuentes-Bolanos, Noemi, Gibson, Paul, Grant, Ronald, Hammad, Rawan, Harrison, Lynn W., Irwin, Meredith S., Johnston, Donna L., Kane, Sarah, Lafay-Cousin, Lucie, Lara-Corrales, Irene, Larouche, Valerie, Mathews, Natalie, Meyn, M. Stephen, Michaeli, Orli, Perrier, Renée, Pike, Meghan, Punnett, Angela, Ramaswamy, Vijay, Say, Jemma, Somers, Gino, Tabori, Uri, Thibodeau, My Linh, Toupin, Annie-Kim, Tucker, Katherine M., van Engelen, Kalene, Vairy, Stephanie, Waespe, Nicolas, Warby, Meera, Wasserman, Jonathan D., Whitlock, James A., Sinnett, Daniel, Jabado, Nada, Nathan, Paul C., Shlien, Adam, Kamihara, Junne, Deyell, Rebecca J., Ziegler, David S., Nichols, Kim E., Dendukuri, Nandini, Malkin, David, Villani, Anita, Foulkes, William D.

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 Tekijä Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

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