Treffer 1 - 20 von 30 für Suche 'Walsh, Emily Nicole', Suchdauer: 1,42s Treffer weiter einschränken
  1. 1
  2. 2
  3. 3
  4. 4
  5. 5
  6. 6

    Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation von Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

    Veröffentlicht in Genetics in medicine

    Volltext
    Artikel
  7. 7
  8. 8
  9. 9

    Differences in Clinical Features and Comorbid Burden between HLA-C∗06:02 Carrier Groups in >9,000 People with Psoriasis von Douroudis, Konstantinos, Ramessur, Ravi, Barbosa, Ines A., Baudry, David, Duckworth, Michael, Angit, Caroline, Capon, Francesca, Curtis, Charles J., Di Meglio, Paola, Goulding, Jonathan M.R., Griffiths, Christopher E.M., Lee, Sang Hyuck, Mahil, Satveer K., Parslew, Richard, Reynolds, Nick J., Shipman, Alexa R., Warren, Richard B., Yiu, Zenas Z.N., Simpson, Michael A., Dand, Nick, Smith, Catherine H., Evans, Ian, Murphy, Ruth, McPherson, Tess, Kleyn, Elise, Laws, Philip, Rashid, Amir, Alabas, Oras, Morrison, Simon, Ahmed, Shehnaz, Pearson, Eleanor, Richards, Josh, Mackenzie, Teena, Kirby, Brian, Burden, David, Lawson, Linda, McElhone, Kathleen, Ormerod, Anthony, Owen, Caroline, Ali, Mahmud, Anstey, Alex, Antony, Fiona, Archer, Charles, August, Suzanna, Balasubramaniam, Periasamy, Baxter, Kay, Bonsall, Alexandra, Brown, Victoria, Burova, Katya, Butt, Aamir, Cliff, Sandeep, Costache, Mihaela, Darne, Sharmela, Davies, Emily, DeGiovanni, Claudia, Desai, Trupti, DeSilva, Bernadette, Diba, Victoria, Domanne, Eva, Fahy, Caoimhe, Ferguson, Leila, Gkini, Maria-Angeliki, Godwin, Alison, Hammonds, Fiona, Johnson, Sarah, Joseph, Teresa, Kalavala, Manju, Khorshid, Mohsen, Labinoti, Liberta, Lawson, Nicole, Layton, Alison, Lees, Tara, Levell, Nick, Lyon, Calum, McBride, Sandy, McCormack, Sally, McKenna, Kevin, Mellor, Serap, Popli, Urvi, Perera, Gay, Ponnambath, Nabil, Ramsay, Helen, Ranasinghe, Aruni, Reeken, Saskia, Rose, Rebecca, Rotarescu, Rada, Salvary, Ingrid, Sands, Kathy, Sinha, Tapati, Stefanescu, Simina, Sundararaj, Kavitha, Taylor, Michelle, Topliffe, Joanne, Verdolini, Roberto, Wachsmuth, Rachel, Wade, Martin, Walsh, Sarah, Walton, Shernaz, Wilcox, Louise, Wright, Andrew


    Volltext
    Artikel
  10. 10

    Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations von Kurata, Harley T., Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Bolkier, Yoav, Dickson, Patricia, Donald, Kirsten A., Eliyahu, Aviva, Emrick, Lisa, Odent, Sylvie, Ortiz-Gonzalez, Xilma, Rosenfeld, Jill A., Skraban, Cara, Alejandro, Mercedes E., Azamian, Mahshid S., Chao, Hsiao-Tuan, Dai, Hongzheng, Dhar, Shweta U., Karaviti, Lefkothea, Lee, Brendan H., Rosenfeld, Jill A., Scott, Daryl A., Wangler, Michael F., Eng, Christine M., Sullivan, Kathleen, Goldstein, David B., McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Beggs, Alan H., Cobban, Laurel A., Cooper, Cynthia M., Fieg, Elizabeth L., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Stoler, Joan M., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Bivona, Stephanie, Isasi, Rosario, Levitt, Roy, Tekin, Mustafa, Thorson, Willa, Eckstein, David J., Mamounas, Laura A., D’Souza, Precilla, Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Nath, Avi, Baker, Eva, Power, Bradley, Mosbrook-Davis, Deborah, Rossignol, Francis, Yousef, Muhammad, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Jarvik, Gail P., Jarvik, Jeffrey, Mefford, Heather, Merritt, J. Lawrence, Raskind, Wendy, Sybert, Virginia, Wener, Mark, Wenger, Tara, Fisher, Paul G., Reuter, Chloe M., Smith, Kevin S., Zastrow, Diane B., Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Fogel, Brent L., Krakow, Deborah, Lee, Hane, Palmer, Christina G.S., Papp, Jeanette C., Woods, Jeremy D., Andrews, Ashley, Pace, Laura, Viskochil, Dave, Bican, Anna, Kennedy, Jennifer, Cogan, Joy D., Cole, F. Sessions, Kiley, Dana, Sisco, Kathy, Schedl, Timothy, Solnica-Krezel, Lilianna, Pitt, Geoffrey S.

    Veröffentlicht in Genetics in medicine

    Volltext
    Artikel
  11. 11

    An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids von Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Perlman, Seth, Martin, Nicole, Brault, Jennifer, Gahl, William A., Alejandro, Mercedes E., Dai, Hongzheng, Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Potocki, Lorraine, Scott, Daryl A., Eng, Christine M., Deardorff, Matthew, Hassey, Kelly, Sullivan, Kathleen, Tan, Queenie K.-G., Beggs, Alan H., Berry, Gerard T., Cooper, Cynthia M., Pallais, J. Carl, Rodan, Lance H., Kelley, Emily G., Morava, Eva, Forghani, Irman, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Tekin, Mustafa, Thorson, Willa, Findley, Laurie C., Krasnewich, Donna M., Manolio, Teri A., Goldrich, Madison P., Draper, David D., Nath, Avi, Pusey, Barbara N., Toro, Camilo, Baker, Eva, Gochuico, Bernadette, Mosbrook-Davis, Deborah, Rossignol, Francis, Adam, Margaret, Amendola, Laura, Cunningham, Michael, Jarvik, Gail P., Jarvik, Jeffrey, Lam, Christina, Raskind, Wendy, Sybert, Virginia, Ashley, Euan A., Coakley, Terra R., Hom, Jason, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, Ruzhnikov, Maura, Tabor, Holly K., Tucker, Brianna M., Zastrow, Diane B., Byrd, William E., Dell’Angelica, Esteban C., Douine, Emilie D., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Parker, Neil H., Sinsheimer, Janet S., Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Pace, Laura, Marth, Gabor, Viskochil, Dave, Bayrak-Toydemir, Pinar, Duncan, Laura, Robertson, Amy K., Solem, Emily, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Wanders, Ronald J.A., Vaz, Frédéric M.

    Veröffentlicht in Genetics in medicine

    Volltext
    Artikel
  12. 12
  13. 13
  14. 14

    One is the loneliest number: genotypic matchmaking using the electronic health record von Koziura, Mary E., Phillips, John A., Peterson, Josh F., Newman, John H., Bastarache, Lisa, Bacino, Carlos A., Balasubramanyam, Ashok, Clark, Gary D., Dhar, Shweta U., Jamal, Fariha, Lalani, Seema R., Lewis, Richard A., Orengo, James P., Vogel, Tiphanie P., Wangler, Michael F., Goldstein, David B., Cope, Heidi, Jiang, Yong-hui, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Fieg, Elizabeth L., Korrick, Susan, Krier, Joel B., Maas, Richard L., Pallais, J. Carl, Rodan, Lance H., Silverman, Edwin K., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., Bick, David P., Birch, Camille L., Boone, Braden E., Levy, Shawn E., Worthey, Elizabeth A., Oglesbee, Devin, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, McCauley, Jacob, Sacco, Ralph, Thorson, Willa, Colley, Heather A., Krasnewich, Donna M., Mamounas, Laura A., Rowley, Robb K., Tamburro, Cecelia P., Bonnenmann, Carsten, Estwick, Tyra, Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Novacic, Donna, Pusey, Barbara N., Sharma, Prashant, Toro, Camilo, Wahl, Colleen E., Yu, Guoyun, Baker, Eva, Adams, David R., Malicdan, May Christine V., Yang, John, Koeller, David M., Kyle, Jennifer E., Webb-Robertson, Bobbie-Jo M., Bernstein, Jonathan A., Bonner, Devon, Fernandez, Liliana, Huang, Yong, Kohler, Jennefer N., Majcherska, Marta M., Reuter, Chloe M., Sampson, Jacinda B., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Fresard, Laure, Bejerano, Gill, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Martin, Martin G., Woods, Jeremy D., Yoon, Amanda J., Botto, Lorenzo, Andrews, Ashley, Carey, John, Quinlan, Aaron, Bayrak-Toydemir, Pinar, Postlethwait, John H., Shakachite, Lisa, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Solnica-Krezel, Lilianna

    Veröffentlicht in Genetics in medicine

    Volltext
    Artikel
  15. 15
  16. 16
  17. 17
  18. 18

    Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations von Kurata, Harley T., Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Bolkier, Yoav, Dickson, Patricia, Donald, Kirsten A., Eliyahu, Aviva, Emrick, Lisa, Odent, Sylvie, Ortiz-Gonzalez, Xilma, Rosenfeld, Jill A., Skraban, Cara, Alejandro, Mercedes E., Azamian, Mahshid S., Chao, Hsiao-Tuan, Dai, Hongzheng, Dhar, Shweta U., Karaviti, Lefkothea, Lee, Brendan H., Rosenfeld, Jill A., Scott, Daryl A., Wangler, Michael F., Eng, Christine M., Sullivan, Kathleen, Goldstein, David B., McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Beggs, Alan H., Cobban, Laurel A., Cooper, Cynthia M., Fieg, Elizabeth L., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Stoler, Joan M., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Bivona, Stephanie, Isasi, Rosario, Levitt, Roy, Tekin, Mustafa, Thorson, Willa, Eckstein, David J., Mamounas, Laura A., D’Souza, Precilla, Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Nath, Avi, Baker, Eva, Power, Bradley, Mosbrook-Davis, Deborah, Rossignol, Francis, Yousef, Muhammad, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Chanprasert, Sirisak, Glass, Ian, Jarvik, Gail P., Jarvik, Jeffrey, Mefford, Heather, Merritt, J. Lawrence, Raskind, Wendy, Sybert, Virginia, Wener, Mark, Wenger, Tara, Fisher, Paul G., Reuter, Chloe M., Smith, Kevin S., Zastrow, Diane B., Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Fogel, Brent L., Krakow, Deborah, Lee, Hane, Palmer, Christina G.S., Papp, Jeanette C., Woods, Jeremy D., Andrews, Ashley, Pace, Laura, Viskochil, Dave, Bican, Anna, Kennedy, Jennifer, Cogan, Joy D., Cole, F. Sessions, Kiley, Dana, Sisco, Kathy, Schedl, Timothy, Solnica-Krezel, Lilianna, Pitt, Geoffrey S.

    Veröffentlicht in Genetics in medicine

    Volltext
    Artikel
  19. 19
  20. 20

    eQTLs identify regulatory networks and drivers of variation in the individual response to sepsis von Burnham, Katie L., Milind, Nikhil, Lee, Wanseon, Kwok, Andrew J., Cano-Gamez, Kiki, Geoghegan, Cyndi G., Zhang, Ping, Addison, Jenni, Galley, Helen, Roughton, Sian, Taylor, Jane, Tennant, Heather, Guleri, Achyut, Arawwawala, Dilshan, Durcan, John, Mitchell-Inwang, Christine, Short, Alasdair, Swan, Karen, Williams, Sarah, Errington, Emily, Gordon, Tony, Templeton, Maie, McCauley, Marie, Venatesh, Pyda, Baudouin, Simon, Grier, Sally, Hall, Elaine, Soar, Jasmeet, Brett, Stephen, Kitson, David, Wilson, Robert, Hall, Peter, McKechnie, Stuart, Faras-Arraya, Roser, Garrard, Christopher, Hutton, Paula, Millo, Julian, Parsons, Penny, Smiths, Alex, Young, Duncan, Raymode, Parizade, Kazembe, Sandra, Rich, Natalie, Roberts, Emma, Thompson, Jonathan, Rosbergen, Melissa, Cuesta, Jeronimo Moreno, Bion, Julian, Carrera, Ronald, Lees, Sarah, Millar, Joanne, Ruel, Sebastian, Willis, Heather, Atkinson, Jane, Brown, Abby, Kapila, Atul, Prowse, Heather, Bland, Martin, Bullock, Lynne, Krige, Anton, Mills, Gary, Humphreys, John, Armitage, Kelsey, Laha, Shond, Baldwin, Jacqueline, Doherty, Nicola, Calder, Verity, Swan, Catherine, Payne, Heather, Higgins, David, Andrews, Sarah, Mappleback, Sarah, Watson, D., McLees, Eleanor, Purdy, Alice, Stotz, Martin, Ochelli-Okpue, Adaeze, Bonner, Stephen, Whitehead, Iain, Hugil, Keith, Goodridge, Victoria, Cawthor, Louisa, Kuper, Martin, Pahary, Sheik, Bellingan, Geoffrey, Marshall, Richard, Montgomery, Hugh, Ryu, Jung Hyun, Bercades, Georgia, Bentley, Andrew, Allcock, Alice, Davenport, Emma, Geoghegan, Cyndi, Knight, Julian, Maugeri, Narelle, Radhakrishnan, Jayachandran, McKechnie, Stuart, Soranzo, Nicole, Knight, Julian C., Davenport, Emma E.

    Veröffentlicht in Cell genomics

    Volltext
    Artikel