Treffer 1 - 20 von 68 für Suche 'Leblanc, Adeline', Suchdauer: 1,48s Treffer weiter einschränken
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    Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening von Nicolas, Gaël, Zaréa, Aline, Quenez, Olivier, Rousseau, Stéphane, Richard, Anne-Claire, Bonnevalle, Antoine, Schramm, Catherine, Olaso, Robert, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Andriuta, Daniela, Auriacombe, Sophie, Balageas, Anna-Chloé, Ballan, Guillaume, Barbay, Mélanie, Béjot, Yannick, Belliard, Serge, Benaiteau, Marie, Bennys, Karim, Boutoleau-Bretonnière, Claire, Branger, Pierre, Carlier, Jasmine, Cartz-Piver, Leslie, Cassagnaud, Pascaline, Ceccaldi, Mathieu-Pierre, Chauviré, Valérie, Chen, Yaohua, Cognat, Emmanuel, Contegal-Callier, Fabienne, Couratier, Philippe, Crinquette, Charlotte, Dautricourt, Sophie, de la Sayette, Vincent, Deffond, Didier, Demurger, Florence, Deramecourt, Vincent, Derollez, Céline, Doco Fenzy, Martine, Dumurgier, Julien, Dutray, Anaïs, Etcharry-Bouyx, Frédérique, Formaglio, Maïté, Gabelle, Audrey, Gainche-Salmon, Anne, Godefroy, Olivier, Gregoire, Chloé, Grimaldi, Stephan, Gueniat, Julien, Gueriot, Claude, Guillet-Pichon, Virginie, Haffen, Sophie, Hanta, Cezara-Roxana, Hardy, Clémence, Hautecloque, Geoffroy, Heitz, Camille, Hourregue, Claire, Jonveaux, Thérèse, Jurici, Snejana, Koric, Lejla, Krolak-Salmon, Pierre, Lagarde, Julien, Lanoiselée, Hélène-Marie, Laurens, Brice, Le Ber, Isabelle, Le Guyader, Gwenaël, Lebouvier, Thibaud, Levy, Richard, Lippi, Anaïs, Mackowiak, Marie-Anne, Maureille, Aurelien, Migliaccio, Raffaella, Milongo-Rigal, Emilie, Mohr, Sophie, Mollion, Hélène, Nivelle, Julia, Noiray, Camille, Olivieri, Pauline, Paquet, Claire, Pariente, Jérémie, Pasquier, Florence, Perron, Alexandre, Philippi, Nathalie, Planche, Vincent, Pouclet-Courtemanche, Hélène, Rafiq, Marie, Rollin-Sillaire, Adeline, Saracino, Dario, Sarazin, Marie, Sauvée, Mathilde, Teichmann, Marc, Thauvin, Christel, Thomas, Quentin, Tisserand, Camille, Turpinat, Cédric, Van Damme, Laurène, Vercruysse, Olivier, Wagemann, Nathalie, Charbonnier, Camille, Wallon, David

    Veröffentlicht in Genetics in medicine

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    Bi-allelic variants in INTS11 are associated with a complex neurological disorder von Tepe, Burak, Cogne, Benjamin, Neil, Jennifer E., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Blanc, Pierre, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak-Toydemir, Pinar, Beck, Anita, Behrens, Edward, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Byers, Peter, Byrd, William E., Carey, John, Clark, Gary D., Coakley, Terra R., Colley, Heather A., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Deardorff, Matthew, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Emrick, Lisa T., Fernandez, Liliana, Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden-Grant, Katie, Goldrich, Madison P., Gutierrez, Irma, Hamid, Rizwan, Hayes, Nichole, Hom, Jason, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N., Krasnewich, Donna M., LeBlanc, Kimberly, Levitt, Roy, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Merritt, J. Lawrence, Morava, Eva, Newman, John H., Nickerson, Deborah, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Palmer, Christina GS, Papp, Jeanette C., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Scott, C. Ron, Shin, Jimann, Sinsheimer, Janet S., Sullivan, Jennifer A., Sun, Angela, Tabor, Holly K., Telischi, Fred, Toro, Camilo, Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walker, Melissa, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Zuchner, Stephan


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    A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 von Michener, Sydney L., Chan, Hiuling, Rosenfeld, Jill A., Bekheirnia, Mir Reza, Wagner, Matias, Engels, Hartmut, Guillen Sacoto, Maria J., McDonnell, Pamela P., Pastinen, Tomi, Zhou, Dihong, Bolton, Jeffrey, Julia Suh, Dong Sun, Toosi, Mehran Beiraghi, Maroofian, Reza, Schaefer, Gerald Bradley, Russ-Hall, Sophie, Carvill, Gemma L., Mefford, Heather, Acosta, Maria T., Adams, David R., Amendola, Laura, Bademci, Guney, Balasubramanyam, Ashok, Beck, Anita, Bican, Anna, Blue, Elizabeth, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Carey, John, Crouse, Andrew B., Dipple, Katrina, Doss, Argenia L., Douine, Emilie D., Eckstein, David J., Fieg, Elizabeth L., Forghani, Irman, Godfrey, Rena A., Grajewski, Alana, Hahn, Sihoun, Hisama, Fuki M., Hutchison, Sarah, Introne, Wendy, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., LeBlanc, Kimberly, Levitt, Roy, Lewis, Richard A., Loo, Sandra K., Mahoney, Rachel, Mao, Rong, Maravilla, Kenneth, Marwaha, Shruti, McCray, Alexa T., Mefford, Heather, Merritt, J. Lawrence, Morava, Eva, Nakano-Okuno, Mariko, Nelson, Stanley F., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rossignol, Francis, Ruzhnikov, Maura, Saporta, Mario, Seto, Elaine, Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vogel, Tiphanie P., Wallace, Stephanie, Wambach, Jennifer, Wegner, Daniel, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John, Chao, Hsiao-Tuan


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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 variants in DENND5B cause a neurodevelopmental disorder von Scala, Marcello, Ferla, Matteo, Fatemi, Ali, Phillips, John A., Rio, Marlene, Siquier, Karine, Musante, Ilaria, Baldassari, Simona, Iacomino, Michele, Acosta, Maria T., Allworth, Aimee, Afzali, Ben, Bademci, Guney, Beck, Anita, Berry, Gerard T., Bican, Anna, Bohnsack, John, Botto, Lorenzo, Brown, Gabrielle, Carrasquillo, Olveen, Chanprasert, Sirisak, Chao, HsiaoTuan, Chinn, Ivan, Clark, Gary D., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Fisher, Paul G., Fogel, Brent L., Gahl, William A., Glass, Ian, Godfrey, Rena A., Grajewski, Alana, Gropman, Andrea, Halley, Meghan C., Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, Hom, Jason, Huang, Alden, Introne, Wendy, Jarvik, Jeffrey, Jobanputra, Vaidehi, Kilich, Gonench, Kohler, Jennefer N., Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Marth, Gabor, Martin, Beth A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo, Morimoto, Marie, Nakano-Okuno, Mariko, Nieves-Rodriguez, Shirley, Orengo, James P., Pace, Laura, Parker, Neil H., Quinlan, Aaron, Raper, Anna, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rossignol, Francis, Saporta, Mario, Schaechter, Judy, Seto, Elaine, Shelkowitz, Emily, Shin, Jimann, Solnica-Krezel, Lilianna, Sweetser, David A., Sybert, Virginia, Tarakad, Arjun, Velinder, Matt, Viskochil, Dave, Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Reed, Sara, Al Saif, Hind, Walsh, Matthew B., Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Severino, Mariasavina


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    Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care von Maghiro, AudreyStephannie, Tabor, Holly K., Acosta, Maria T., Amendola, Laura, Andrews, Ashley, Balasubramanyam, Ashok, Baldridge, Dustin, Bennett, Jimmy, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Boyd, Brenna, Burke, Elizabeth A., Byers, Peter, Peter Chang, Ta Chen, Chanprasert, Sirisak, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Sessions Cole, F., Colley, Heather A., Cope, Heidi, D'Souza, Precilla, Dasari, Surendra, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Introne, Wendy, Izumi, Kosuke, Jayadev, Suman, Kiley, Dana, Kobren, Shilpa N., Korrick, Susan, Krasnewich, Donna M., Lam, Christina, Lanza, Ian R., Lee, Brendan H., Loo, Sandra K., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Marth, Gabor, McConkie-Rosell, Allyn, Mefford, Heather, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Robertson, Amy K., Rossignol, Francis, Ruzhnikov, Maura, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sullivan, Jennifer A., Sybert, Virginia, Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Toro, Camilo, Ungar, Rachel A., Vanderver, Adeline, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John

    Veröffentlicht in The Journal of pediatrics

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