Treffer 1 - 13 von 13 für Suche 'Allard, Daryl', Suchdauer: 1,38s Treffer weiter einschränken
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    MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome von Wan, Ying-Wooi, Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Mohr, Stephanie E., Adams, Christopher J., Allard, Patrick, Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Birch, Camille L., Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Dell’Angelica, Esteban C., Donnell-Fink, Laurel A., Draper, David D., Dries, Annika M., Emrick, Lisa T., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary G., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Hackbarth, Mary E., Hamid, Rizwan, Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Johnston, Jean M., Koeller, David M., Kohler, Jennefer N., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lee, Paul R., Levy, Shawn E., Liebendorfer, Adam P., Loomis, Carson R., Maas, Richard L., MacRae, Calum A., Manolio, Teri A., McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Newberry, J. Scott, Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pena, Loren D.M., Posey, Jennifer E., Potocki, Lorraine, Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Schoch, Kelly, Scott, Daryl A., Sharma, Prashant, Silverman, Edwin K., Soldatos, Ariane G., Splinter, Kimberly, Stoler, Joan M., Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Vilain, Eric, Wahl, Colleen E., Walley, Nicole M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wolfe, Lynne A., Yamamoto, Shinya, Yang, Yaping, Zornio, Patricia A., Perrimon, Norbert, Bellen, Hugo J.


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    A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative von Schoch, Kelly, Spillmann, Rebecca, Tan, Queenie K.-G., McConkie-Rosell, Allyn, Jiang, Yong-Hui, Goldstein, David B., Adams, David R., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Beggs, Alan H., Birch, Camille L., Bonner, Devon, Boone, Braden E., Brown, Donna M., Chen, Shan, Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Davidson, Jean M., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Goldstein, David B., Gourdine, Jean-Philippe F., Haendel, Melissa, Handley, Lori H., Krasnewich, Donna M., Krier, Joel B., Lazar, Jozef, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., McConkie-Rosell, Allyn, McCormack, Colleen E., Might, Matthew, Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina GS, Parker, Neil H., Phillips, John A., Postlethwait, John H., Reuter, Chloe M., Sampson, Jacinda B., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Wheeler, Matthew T., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zhao, Chunli, Zheng, Allison

    Veröffentlicht in Genetics in medicine

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    The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease von Ramoni, Rachel B., Mulvihill, John J., Adams, David R., Allard, Patrick, Ashley, Euan A., Gahl, William A., Loscalzo, Joseph, Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Balasubramanyam, Ashok, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brush, Matthew, Cogan, Joy D., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Dorset, Daniel C., Eckstein, David J., Estwick, Tyra, Godfrey, Rena A., Goheen, Mitchell, Goldstein, David B., Gordon, Mary “Gracie” G., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Handley, Lori H., Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jones, Angela L., Koehler, Alanna E., Kohler, Jennefer N., Krasnewich, Donna M., Kyle, Jennifer E., Latham, Lea, Lau, C. Christopher, Lazar, Jozef, Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Manolio, Teri A., Markello, Thomas C., Mazur, Paul, McConkie-Rosell, Allyn, Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Palmer, Christina G.S., Phillips, John A., Postlethwait, John H., Rosenfeld, Jill A., Schaffer, Katherine E., Schroeder, Molly C., Scott, Daryl A., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tolman, Nathanial J., Tran, Alyssa A., Valivullah, Zaheer M., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Wheeler, Matthew T., Yu, Guoyun, Wise, Anastasia L.


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    IRF2BPL Is Associated with Neurological Phenotypes von Marcogliese, Paul C., Rosenfeld, Jill A., Koenig, Mary Kay, Chen, Agnes H., Dickson, Patricia I., Vera, Moin U., Salamon, Noriko, Infante, Elena, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Kanca, Oguz, Xia, Fan, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Lark, Robert, Riley, Kacie, Golden-Grant, Katie, Poppe, Bruce, Terryn, Wim, Adams, David R., Allard, Patrick, Bacino, Carlos A., Bick, David P., Bostwick, Bret L., Brush, Matthew, Burrage, Lindsay C., Clark, Gary D., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dorrani, Naghmeh, Dorset, Daniel C., Esteves, Cecilia, Fogel, Brent L., Gahl, William A., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Howerton, Ellen M., Jiang, Yong-hui, Johnston, Jean M., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Lipson, Allen, Loo, Sandra K., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Robertson, Amy K., Sampson, Jacinda B., Schoch, Kelly, Shashi, Vandana, Smith, Kevin S., Splinter, Kimberly, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Waters, Katrina M., Westerfield, Monte, Yu, Guoyun, Zheng, Allison, Yamamoto, Shinya, Wangler, Michael F., Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J.


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    Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay von Sullivan, Jennifer A., Shashi, Vandana, Jiang, Yong-hui, Stong, Nicholas, Fiala, Elise, Willing, Marcia, Pfundt, Rolph, Kleefstra, Tjitske, Orellana, Carmen, Monfort, Sandra, Roscioli, Tony, Jones, Wendy D., Sebastian, Jessica, Sonal, Desai, Sakkubai, Naidu, Faivre, Laurence, Krantz, Ian D., Adams, David R., Alejandro, Mercedes E., Azamian, Mahshid S., Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Chen, Shan, Coakley, Terra R., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Eskin, Ascia, Friedman, Noah D., Glanton, Emily, Godfrey, Rena A., Gould, Sarah E., Gropman, Andrea L., Hom, Jason, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Kohane, Isaac S., Krieg, Elizabeth L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCray, Alexa T., Might, Matthew, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Pena, Loren D.M., Phillips, John A., Postlethwait, John H., Reuter, Chloe M., Rosenfeld, Jill A., Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Sinsheimer, Janet S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tran, Alyssa A., Valivullah, Zaheer M., Wahl, Colleen E., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Worthey, Elizabeth A., Yang, Yaping, Zastrow, Diane B., Campeau, Philippe M.


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    Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder von Yoon, Wan Hee, Jangam, Sharayu, Davidson, Jean M., Grove, Megan E., Kohler, Jennefer N., Holmes, Matthew, Zhao, Chunli, Contrepois, Kévin, Heyman, Heino M., Webb-Robertson, Bobbie-Jo M., Alejandro, Mercedes E., Allard, Patrick, Balasubramanyam, Ashok, Barseghyan, Hayk, Bican, Anna, Birch, Camille L., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dorset, Daniel C., Draper, David D., Eckstein, David J., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Hanchard, Neil A., Herzog, Matthew R., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krier, Joel B., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, May, Thomas, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Novacic, Donna, Orange, Jordan S., Palmer, Christina G.S., Potocki, Lorraine, Pusey, Barbara N., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stong, Nicholas, Tifft, Cynthia J., Tran, Alyssa A., Valivullah, Zaheer M., Ward, Patricia A., Yamamoto, Shinya, Snyder, Michael, Merker, Jason D., Fisher, Paul G., Mayr, Johannes A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A.


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    IRF2BPL Is Associated with Neurological Phenotypes von Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Vera, Moin U., Graham, John M., Infante, Elena, Zuo, Zhongyuan, Lee, Pei-Tseng, Xia, Fan, Smith, Edward C., Jasien, Joan, Spiridigliozzi, Gail, Koeberl, Dwight D., Golden-Grant, Katie, Terryn, Wim, Adams, David R., Allard, Patrick, Bacino, Carlos A., Bick, David P., Bostwick, Bret L., Brush, Matthew, Burrage, Lindsay C., Clark, Gary D., Coakley, Terra R., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Esteves, Cecilia, Fogel, Brent L., Gahl, William A., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Howerton, Ellen M., Jiang, Yong-hui, Johnston, Jean M., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Lipson, Allen, Loo, Sandra K., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Robertson, Amy K., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Smith, Kevin S., Splinter, Kimberly, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Waters, Katrina M., Westerfield, Monte, Yamamoto, Shinya, Yu, Guoyun, Zheng, Allison, Wangler, Michael F., Nelson, Stanley F., Bellen, Hugo J.


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    A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing von Zastrow, Diane B., Bonner, Devon, Reuter, Chloe M., Fisk, Dianna G., Yang, Yaping, Eng, Christine M., Fisher, Paul G., Merker, Jason, Schelley, Susan, Zappala, Zach, Prybol, Cameron, Olahova, Monika, Allard, Patrick, Bacino, Carlos A., Beggs, Alan H., Behnam, Babak, Bick, David P., Birch, Camille L., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Chen, Shan, Coakley, Terra R., Cogan, Joy D., Cope, Heidi, Craigen, William J., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina M., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fieg, Elizabeth L., Fogel, Brent L., Godfrey, Rena A., Goldstein, David B., Hamid, Rizwan, Holm, Ingrid A., Howerton, Ellen M., Huang, Yong, Jones, Angela L., Karaviti, Lefkothea, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Hane, Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., Martínez‐Agosto, Julian A., May, Thomas, McConkie‐Rosell, Allyn, McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Moretti, Paolo M., Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Orengo, James P., Pallais, J. Carl, Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Rosenfeld, Jill A., Sampson, Jacinda B., Shakachite, Lisa, Sharma, Prashant, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Webb‐Robertson, Bobbie‐Jo M., Westerfield, Monte, Wolfe, Lynne A., Yu, Guoyun, Zheng, Allison

    Veröffentlicht in Journal of genetic counseling

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    IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells von Sheehan, Jonathan H., Bastarache, Lisa, Stone, William M., Perugino, Cory, Pilkinton, Mark, McDonnell, Wyatt J., Cogan, Joy, Mattoo, Hamid, Hamid, Rizwan, Allard, Patrick, Bacino, Carlos A., Beggs, Alan H., Behnam, Babak, Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Brown, Donna M., Brush, Matthew, Chen, Shan, Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina M., Donnell‐Fink, Laurel A., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Goldman, Alica M., Gourdine, Jean‐Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Handley, Lori H., Herzog, Matthew R., Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Korrick, Susan, Kyle, Jennifer E., Lalani, Seema R., LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Marom, Ronit, Martin, Martin G., Marwaha, Shruti, McConkie‐Rosell, Allyn, McCormack, Colleen E., Merker, Jason D., Might, Matthew, Murdock, David R., Scott Newberry, J., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Papp, Jeanette C., Reuter, Chloe M., Rodan, Lance H., Rosenfeld, Jill A., Scott, Daryl A., Sharma, Prashant, Spillmann, Rebecca C., Stoler, Joan M., Sweetser, David A., Tran, Alyssa A., Valivullah, Zaheer M., Vogel, Tiphanie P., Waggott, Daryl M., Walker, Melissa, Waters, Katrina M., Wheeler, Matthew T., Wise, Anastasia L., Worthey, Elizabeth A., Yang, Yaping, Zastrow, Diane B., Zheng, Allison


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