Treffer 1 - 20 von 2.013 für Suche 'Walsh, Chris T', Suchdauer: 7,01s Treffer weiter einschränken
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    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

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    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

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    De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype von Pena, Loren D.M., Hempel, Maja, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Shuss, Christine M., Burrage, Lindsay C., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Lalani, Seema R., Lewis, Richard A., Posey, Jennifer E., Hanchard, Neil A., Mercedes, Alejandro E., Wangler, Michael F., Muzny, Donna M., Ward, Patricia A., Ramoni, Rachel B., McCray, Alexa T., Mazur, Paul, Splinter, Kimberly, Esteves, Cecilia, Jiang, Yong-hui, Pena, Loren D.M., McConkie-Rosell, Allyn, Schoch, Kelly, Spillmann, Rebecca C., Goldstein, David B., Loscalzo, Joseph, Rodan, Lance H., Walsh, Chris A., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Lincoln, Sharyn A., Worthey, Elizabeth A., Lazar, Joe, Handley, Lori H., Newberry, J. Scott, Schroeder, Molly C., Brown, Donna M., Levy, Shawn E., Dorset, Dan C., Jones, Angela L., Manolio, Teri A., Wise, Anastasia L., Eckstein, David J., Krasnewich, Donna M., Loomis, Carson R., Iglesias, Brenda, Martin, Casey, Koeller, David M., Ashley, Euan A., Zornio, Patricia A., Nelson, Stan F., Palmer, Christina G.S., Allard, Patrick, Dell Angelica, Esteban C., Lee, Hane, Papp, Jeanette C., Dorrani, Naghmeh, Draper, David D., Estwick, Tyra, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Johnston, Jean M., Latham, Lea, Macnamara, Ellen F., Maduro, Valerie V., Malicdan, May V., McCarty, Alexandra J., Murphy, Jennifer L., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Soldatos, Ariane G., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Wahl, Colleen E., Weech, Alec A., Yu, Guoyun, Hamid, Rizwan, Bellet, Jane S., Keels, Martha Ann, El-Dairi, Maysantoine, Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Kurki, Mitja I., Hoischen, Alexander, Goldstein, David B.


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    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay von Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Liston, Eriskay, Scaglia, Fernando, Rosenfeld, Jill A., Deardorff, Matthew A., Akdemir, Zeynep Coban, Jasien, Joan, Kansagra, Sujay, Freedman, Sharon, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Nelson, Stanley F., Lee, Hane, Vilain, Eric, Kantarci, Sibel, Dorrani, Naghmeh, Mullegama, Sureni, Kang, Sung-Hae, Bacino, Carlos A., Balasubramanyam, Ashok, Craigen, William J., Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Lewis, Richard A., Moretti, Paolo M., Orange, Jordan S., Potocki, Lorraine, Rosenfeld, Jill A., Wangler, Michael F., Yamamoto, Shinya, Muzny, Donna M., Yang, Yaping, Gropman, Andrea L., Goldstein, David B., Schoch, Kelly, Walley, Nicole M., Beggs, Alan H., Krier, Joel B., Loscalzo, Joseph, Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Splinter, Kimberly, Brown, Donna M., Dorset, Dan C., Jones, Angela L., Lazar, Jozef, Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Dayal, Jyoti G., Loomis, Carson R., Mulvihill, John J., Wise, Anastasia L., Haendel, Melissa, Kyle, Jennifer E., Webb-Robertson, Bobbie-Jo M., Kohler, Jennefer N., Herzog, Matthew R., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Frost, Kate, Gartner, Valerie, Gordon, Mary “Gracie” G., Groden, Catherine A., Hardee, Isabel, Johnston, Jean M., Latham, Lea, Lau, C. Christopher, Maduro, Valerie V., Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Valivullah, Zaheer M., Wahl, Colleen E., Weech, Alec A., Westerfield, Monte, Bican, Anna, Phillips, John A., Robertson, Amy K., Xiao, Rui, Posey, Jennifer E., Wangler, Michael F., Shashi, Vandana


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    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

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