Treffer 1 - 16 von 16 für Suche 'Cope, Grace C.', Suchdauer: 3,70s Treffer weiter einschränken
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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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    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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    Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain von Erger, Florian, Settas, Nikolaos, London, Edra, Torti, Erin, Nelson, Stanley F., Acosta, Maria T., Adams, David R., Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Bayrak-Toydemir, Pinar, Beck, Anita, Bennett, Jimmy, Bernstein, Jonathan A., Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Boyd, Brenna, Brokamp, Elly, Burke, Elizabeth A., Byrd, William E., Carrasquillo, Olveen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Coggins, Matthew, Cole, F. Sessions, Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Eckstein, David J., Eng, Christine M., Ferreira, Carlos, Glass, Ian, Gochuico, Bernadette, Goldman, Alica M., Goldstein, David B., Hassey, Kelly, Hom, Jason, Huang, Yong, Jarvik, Gail P., Jarvik, Jeffrey, Krasnewich, Donna M., LaMoure, Grace L., Lalani, Seema R., Lanpher, Brendan C., Latham, Lea, Liu, Pengfei, Liu, Xue Zhong, Macnamara, Ellen F., Malicdan, May Christine V., Manolio, Teri A., Maravilla, Kenneth, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., McGee, Elisabeth, Might, Matthew, Nakano-Okuno, Mariko, Nath, Avi, Nicholas, Sarah K., Novacic, Donna, Orengo, James P., Pallais, J. Carl, Palmer, Christina G.S., Parker, Neil H., Posey, Jennifer E., Quinlan, Aaron, Reuter, Chloe M., Robertson, Amy K., Ruzhnikov, Maura, Samson, Susan L., Saporta, Mario, Schaechter, Judy, Signer, Rebecca H., Smith, Kevin S., Ben Solomon, Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Tabor, Holly K., Tucker, Brianna M., Vanderver, Adeline, Wallace, Stephanie, Wangler, Michael F., Ward, Patricia A., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Zastrow, Diane B., Grange, Dorothy K., Willaert, Rebecca, Theiß, Susanne, Stocco, Amber

    Veröffentlicht in Genetics in medicine

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    Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 von Ravenscroft, Thomas A., Fieg, Elizabeth, Zirin, Jonathan, Kanca, Oguz, Adam, Margaret, Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Andrews, Ashley, Azamian, Mahshid S., Bademci, Guney, Balasubramanya, Ashok, Behrens, Edward, Bican, Anna, Bohnsack, John, Botto, Lorenzo, Brown, Gabrielle, Byers, Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Cobban, Laurel A., Cogan, Joy D., Colley, Heather A., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Dai, Hongzheng, Dayal, Jyoti G., Dipple, Katrina, Dorrani, Naghmeh, Draper, David D., Emrick, Lisa T., Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Findley, Laurie C., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kiley, Dana, Krasnewich, Donna M., Lam, Christina, Lee, Hane, MacDowall, John, Majcherska, Marta M., Mak, Bryan C., Mamounas, Laura A., Martínez-Agosto, Julian A., McCauley, Jacob, Mulvihill, John J., Newman, John H., Oglesbee, Devin, Pace, Laura, Pallais, J. Carl, Palmer, Christina GS, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Rives, Lynette, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Scott, C. Ron, Schedl, Timothy, Shashi, Vandana, Tan, Queenie K.-G., Toro, Camilo, Viskochil, Dave, Wahl, Colleen E., Wambach, Jennifer, Wang, Lee-kai, Wener, Mark, Perry, Katherine Wesseling, Westerfield, Monte, Whitlock, Jordan, Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zhao, Chunli, Osmond, Matthew, Postlethwait, John H., Krier, Joel, Bellen, Hugo J.

    Veröffentlicht in Genetics in medicine

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    Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases von Krier, Joel B., Züchner, Stephan, Huang, Alden, Bastarache, Lisa, Bican, Anna, Liu, Pengfei, Adam, Margaret, Alejandro, Mercedes E., Alvey, Justin, Azamian, Mahshid S., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Bale, Jim, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Boyd, Brenna, Brown, Gabrielle, Burrage, Lindsay C., Butte, Manish J., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Cunningham, Michael, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Eng, Christine M., Falk, Marni, Ferreira, Carlos, Findley, Laurie C., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Godfrey, Rena A., Hanchard, Neil A., Hing, Anne, Huryn, Laryssa, Isasi, Rosario, Kiley, Dana, Korrick, Susan, Krakow, Deborah, Lalani, Seema R., LeBlanc, Kimberly, Liu, Xue Zhong, MacDowall, John, MacRae, Calum A., Mamounas, Laura A., Maravilla, Kenneth, Markello, Thomas C., Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McCauley, Jacob, Merritt, J. Lawrence, Might, Matthew, Moretti, Paolo, Murdock, David R., Nakano-Okuno, Mariko, Nickerson, Deborah, Oglesbee, Devin, Pace, Laura, Pallais, J. Carl, Papp, Jeanette C., Phillips, John A., Power, Bradley, Pusey, Barbara N., Raja, Archana N., Renteria, Genecee, Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sampson, Jacinda B., Schedl, Timothy, Shin, Jimann, Smith, Edward C., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Toro, Camilo, Tucker, Brianna M., Velinder, Matt, Viskochil, Dave, Wambach, Jennifer, Wang, Lee-kai, Ward, Patricia A., Wener, Mark, Westerfield, Monte, Whitlock, Jordan, Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Zein, Wadih

    Veröffentlicht in Genetics in medicine

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    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

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    Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation von Kelley, Emily G., Boyd, Brenna M., Acosta, Maria T, Adams, David R, Amendola, Laura, Andrews, Ashley, Baker, Eva, Bale, Jim, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berry, Gerard T, Blue, Elizabeth, Bonnenmann, Carsten, Bonner, Devon, Brokamp, Elly, Brown, Gabrielle, Burrage, Lindsay C, Carrasquillo, Olveen, Chao, Hsiao‐Tuan, Sessions Cole, F, Cooper, Cynthia M, Crouse, Andrew B, Dai, Hongzheng, Davis, Joie, Dayal, Jyoti G, Deardorff, Matthew, Dhar, Shweta U, Doherty, Daniel, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Falk, Marni, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Glass, Ian, Godfrey, Rena A, Golden‐Grant, Katie, Goldrich, Madison P, Groden, Catherine A, Gutierrez, Irma, Hahn, Sihoun, Hayes, Nichole, Hing, Anne, Isasi, Rosario, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N, Kohler, Jennefer N, Krasnewich, Donna M, Krier, Joel B, Latham, Lea, Lee, Hane, Liu, Xue Zhong, Maas, Richard L, Mak, Bryan C, Maclidan, May Christine V., Martínez‐Agosto, Julian A, McGee, Elisabeth, Might, Matthew, Moretti, Paolo M, Nicholas, Sarah K, Novacic, Donna, Pace, Laura, Papp, Jeanette C, Phillips, John A, Posey, Jennifer E, Potocki, Lorraine, Quinlan, Aaron, Rao, Deepak A, Rives, Lynette, Rosenfeld, Jill A, Smith, Edward C, Spillmann, Rebecca C, Stoler, Joan M, Sybert, Virginia, Tekin, Mustafa, Thorson, Willa, Thurm, Audrey, Toro, Camilo, Tucker, Brianna M, Vanderver, Adeline, Velinder, Matt, Vogel, Tiphanie P, Wallace, Stephanie, Walley, Nicole M, Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wangler, Michael F, Wener, Mark, Wenger, Tara, Yang, John, Yousef, Muhammad

    Veröffentlicht in Journal of genetic counseling

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