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1Academic Journal
المؤلفون: Boyd, Brenna M., Fang, He, Allingham‐Hawkins, Diane, Fischer, Gregory J., Peng, Siwu, Puryear, Lauren, Liu, Yajuan J., Hisama, Fuki M.
المصدر: American Journal of Medical Genetics. Part A; Jan2025, Vol. 197 Issue 1, p1-7, 7p
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2Academic Journal
المؤلفون: Rosenthal, Elisabeth A, Shirts, Brian H, Amendola, Laura M, Horike-Pyne, Martha, Robertson, Peggy D, Hisama, Fuki M, Bennett, Robin L, Dorschner, Michael O, Nickerson, Deborah A, Stanaway, Ian B, Nassir, Rami, Vickers, Kathy T, Li, Christopher, Grady, William M, Peters, Ulrike, Jarvik, Gail P, NHLBI GO Exome Sequencing Project
المصدر: Human Genetics. 137(10)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Clinical Research, Digestive Diseases, Colo-Rectal Cancer, Cancer, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Aged, Aged, 80 and over, BRCA2 Protein, Colorectal Neoplasms, Deoxyribonuclease (Pyrimidine Dimer), Fanconi Anemia Complementation Group Proteins, Female, Genetic Loci, Genetic Variation, Humans, Male, Middle Aged, RNA Helicases, Risk Factors, NHLBI GO Exome Sequencing Project, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/23p7p5p8
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3Academic Journal
المؤلفون: Pujol-Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E, Albano, Giuseppe, Miller, Danny E, Allworth, Aimee, Bennett, James T, Byers, Peter H, Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B, Gillentine, Madelyn A, Glass, Ian, Hing, Anne, Horike-Pyne, Martha, Leppig, Kathleen A, Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H, Rosenthal, Elisabeth A, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P, Timms, Andrew, Wener, Mark, Bamshad, Michael J, Hisama, Fuki M, Jarvik, Gail P, Dipple, Katrina M, Hediger, Matthias A., Stergachis, Andrew B
المصدر: Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; . (2023). Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Annals of Clinical and Translational Neurology, 10(6), pp. 1046-1053. Wiley 10.1002/acn3.51786
مصطلحات موضوعية: 610 Medicine & health
وصف الملف: application/pdf
Relation: https://boris.unibe.ch/182661/
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4Academic Journal
المؤلفون: Mohajeri, Arezoo, Vaseghi-Shanjani, Maryam, Rosenfeld, Jill A, Yang, Gui Xiang, Lu, Henry, Sharma, Mehul, Lin, Susan, Salman, Areesha, Waqas, Meriam, Sababi Azamian, Mahshid, Worley, Kim C, Del Bel, Kate L, Kozak, Frederick K, Rahmanian, Ronak, Biggs, Catherine M, Hildebrand, Kyla J, Lalani, Seema R, Nicholas, Sarah K, Scott, Daryl A, Mostafavi, Sara, van Karnebeek, Clara, Henkelman, Erika, Halparin, Jessica, Yang, Connie L, Armstrong, Linlea, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey, Stuart E, Lehman, Anna, Acosta, Maria T, Adam, Margaret, Adams, David R, Alvarez, Raquel L, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Bacino, Carlos A, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bellen, Hugo J, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, TaChen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Corona, Rosario, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L, Douine, Emilie D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Falk, Marni, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Gahl, William A, Glass, Ian, Gochuico, Bernadette, Goddard, Page C, Godfrey, Rena A, Golden-Grant, Katie, Grajewski, Alana, Don Hadley, Sihoun Hahn, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M, Holm, Ingrid A, Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P, Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N, Kohane, Isaac S, Kohler, Jennefer N, Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M, Kravets, Elijah, Lam, Byron, Lam, Christina, Lanpher, Brendan C, Lanza, Ian R, LeBlanc, Kimberly, Lee, Brendan H, Levitt, Roy, Lewis, Richard A, Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Mahoney, Rachel, Malicdan, MayChristine V, Mamounas, Laura A, Manolio, Teri A, Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A, Martin, Martin G, Martínez-Agosto, Julian A, Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T, McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F, Newman, John H, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P, Pace, Laura, Pak, Stephen, Carl Pallais, J, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, PhillipsIII, John A, Posey, Jennifer E, Potocki, Lorraine, PuseySwerdzewski, Barbara N, Quinlan, Aaron, Rao, Deepak A, Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B, Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Ron Scott, C, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K, Sinsheimer, Janet S, Sisco, Kathy, Smith, Edward C, Smith, Kevin S, Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C, Stoler, Joan M, Sullivan, Kathleen, Sullivan, Jennifer A, Sun, Angela, Sutton, Shirley, Sweetser, David A, Sybert, Virginia, Tabor, Holly K, Tan, Queenie K-G, Tan, Amelia LM, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Ungar, Rachel A, Urv, Tiina K, Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P, Wahl, Colleen E, Walker, Melissa, Wallace, Stephanie, Walley, Nicole M, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F, Ward, Patricia A, Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T, Whitlock, Jordan, Wolfe, Lynne A, Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan
مصطلحات موضوعية: Developmental defects
وصف الملف: text/html
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5Academic Journal
المؤلفون: Pujol‐Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E., Albano, Giuseppe, Miller, Danny E., Allworth, Aimee, Bennett, James T., Byers, Peter H., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Gillentine, Madelyn A., Glass, Ian, Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H., Rosenthal, Elisabeth A., Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Dipple, Katrina M., Hediger, Matthias A., Stergachis, Andrew B.
المساهمون: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, National Institutes of Health, Burroughs Wellcome Fund, National Human Genome Research Institute
المصدر: Annals of Clinical and Translational Neurology ; volume 10, issue 6, page 1046-1053 ; ISSN 2328-9503 2328-9503
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6Academic Journal
المؤلفون: Gupta, Pankhuri, Nakamichi, Kenji, Bonnell, Alyssa C., Yanagihara, Ryan, Radulovich, Nick, Hisama, Fuki M., Chao, Jennifer R., Mustafi, Debarshi
المساهمون: Gerber Foundation, U.S. Department of Health & Human Services | NIH | National Eye Institute, Novartis | Alcon | Alcon Research Institute
المصدر: npj Genomic Medicine ; volume 8, issue 1 ; ISSN 2056-7944
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7Academic Journal
المؤلفون: Xiao, Changrui, Koziura, Mary, Cope, Heidi, Spillman, Rebecca, Tan, Khoon, Hisama, Fuki M., Tifft, Cynthia J., Toro, Camilo
المساهمون: NIH Clinical Center
المصدر: Molecular Genetics & Genomic Medicine ; volume 10, issue 9 ; ISSN 2324-9269 2324-9269
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8Academic Journal
المؤلفون: Miller, Danny E., Lee, Lin, Galey, Miranda, Kandhaya-Pillai, Renuka, Tischkowitz, Marc, Amalnath, Deepak, Vithlani, Avadh, Yokote, Koutaro, Kato, Hisaya, Maezawa, Yoshiro, Takada-Watanabe, Aki, Takemoto, Minoru, Martin, George M., Eichler, Evan E., Hisama, Fuki M., Oshima, Junko
المساهمون: National Institutes of Health, Ministry of Health, Labour and Welfare, Brotman Baty Institute for Precision Medicine, Howard Hughes Medical Institute, Japan Society for the Promotion of Science, NHGRI
المصدر: Journal of Medical Genetics ; volume 59, issue 11, page 1087-1094 ; ISSN 0022-2593 1468-6244
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9Academic Journal
المؤلفون: Amendola, Laura M, Dorschner, Michael O, Robertson, Peggy D, Salama, Joseph S, Hart, Ragan, Shirts, Brian H, Murray, Mitzi L, Tokita, Mari J, Gallego, Carlos J, Kim, Daniel Seung, Bennett, James T, Crosslin, David R, Ranchalis, Jane, Jones, Kelly L, Rosenthal, Elisabeth A, Jarvik, Ella R, Itsara, Andy, Turner, Emily H, Herman, Daniel S, Schleit, Jennifer, Burt, Amber, Jamal, Seema M, Abrudan, Jenica L, Johnson, Andrew D, Conlin, Laura K, Dulik, Matthew C, Santani, Avni, Metterville, Danielle R, Kelly, Melissa, Foreman, Ann Katherine M, Lee, Kristy, Taylor, Kent D, Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A, Raffel, Leslie J, Gordon, Ora, Machini, Kalotina, Desnick, Robert J, Biesecker, Leslie G, Lubitz, Steven A, Mulchandani, Surabhi, Cooper, Greg M, Joffe, Steven, Richards, C Sue, Yang, Yaoping, Rotter, Jerome I, Rich, Stephen S, O’Donnell, Christopher J, Berg, Jonathan S, Spinner, Nancy B, Evans, James P, Fullerton, Stephanie M, Leppig, Kathleen A, Bennett, Robin L, Bird, Thomas, Sybert, Virginia P, Grady, William M, Tabor, Holly K, Kim, Jerry H, Bamshad, Michael J, Wilfond, Benjamin, Motulsky, Arno G, Scott, C Ronald, Pritchard, Colin C, Walsh, Tom D, Burke, Wylie, Raskind, Wendy H, Byers, Peter, Hisama, Fuki M, Rehm, Heidi, Nickerson, Debbie A, Jarvik, Gail P
المصدر: Genome Research. 25(3)
مصطلحات موضوعية: Biological Sciences, Genetics, Minority Health, Genetic Testing, Health Disparities, Biotechnology, Cancer Genomics, Clinical Research, Cancer, Human Genome, Good Health and Well Being, Adult, Black People, Exome, Female, Gene Frequency, Genes, Dominant, Genetic Association Studies, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Incidental Findings, Male, Phenotype, Polymorphism, Single Nucleotide, White People, Medical and Health Sciences, Bioinformatics
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: Tan, Queenie K-G, McConkie-Rosell, Allyn, Mahoney, Rachel, Spillmann, Rebecca C, Schoch, Kelly, Chanprasert, Sirisak, Acosta, Maria T, Toro, Camilo, Rosenfeld, Jill A, Orengo, James P, Scott, Daryl A, Granadillo, Jorge L, Sisco, Kathleen, Wegner, Daniel J, Tekin, Mustafa, Bivona, Stephanie, Peart, LéShon, Rodan, Lance, Bonner, Devon, Wheeler, Matthew T, Bernstein, Jonathan A, Ruzhnikov, Maura, Adams, David R, Hisama, Fuki M, Shashi, Vandana
المصدر: Am J Med Genet A ; ISSN:1552-4833
مصطلحات موضوعية: telegenetics, telehealth, undiagnosed diseases, virtual physical examination
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11Academic Journal
المؤلفون: Boyd, Brenna M., Fang, He, Allingham‐Hawkins, Diane, Fischer, Gregory J., Peng, Siwu, Puryear, Lauren, Liu, Yajuan J., Hisama, Fuki M.
المساهمون: National Society of Genetic Counselors
المصدر: American Journal of Medical Genetics Part A ; ISSN 1552-4825 1552-4833
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12Academic Journal
المؤلفون: Dies, Kira A, Bodell, Adria, Hisama, Fuki M, Guo, Chao-Yu, Barry, Brenda, Chang, Bernard S, Barkovich, A James, Walsh, Christopher A
المصدر: Journal of Child Neurology. 28(2)
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Clinical Research, Pediatric, Genetics, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Adolescent, Adult, Alcohol Drinking, Cognition Disorders, Epilepsy, Female, Health Surveys, Homeodomain Proteins, Humans, Logistic Models, Magnetic Resonance Imaging, Male, Malformations of Cortical Development, Maternal Age, Middle Aged, Movement Disorders, Mutation, Prenatal Care, Retrospective Studies, Risk Factors, Transcription Factors, Young Adult, schizencephaly, magnetic resonance imaging, cortical dysplasia, genetics, prenatal care, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8zx7w8v9
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13Academic Journal
المؤلفون: Yu, Timothy W, Chahrour, Maria H, Coulter, Michael E, Jiralerspong, Sarn, Okamura-Ikeda, Kazuko, Ataman, Bulent, Schmitz-Abe, Klaus, Harmin, David A, Adli, Mazhar, Malik, Athar N, D’Gama, Alissa M, Lim, Elaine T, Sanders, Stephan J, Mochida, Ganesh H, Partlow, Jennifer N, Sunu, Christine M, Felie, Jillian M, Rodriguez, Jacqueline, Nasir, Ramzi H, Ware, Janice, Joseph, Robert M, Hill, R Sean, Kwan, Benjamin Y, Al-Saffar, Muna, Mukaddes, Nahit M, Hashmi, Asif, Balkhy, Soher, Gascon, Generoso G, Hisama, Fuki M, LeClair, Elaine, Poduri, Annapurna, Oner, Ozgur, Al-Saad, Samira, Al-Awadi, Sadika A, Bastaki, Laila, Ben-Omran, Tawfeg, Teebi, Ahmad S, Al-Gazali, Lihadh, Eapen, Valsamma, Stevens, Christine R, Rappaport, Leonard, Gabriel, Stacey B, Markianos, Kyriacos, State, Matthew W, Greenberg, Michael E, Taniguchi, Hisaaki, Braverman, Nancy E, Morrow, Eric M, Walsh, Christopher A
المصدر: Neuron. 77(2)
مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Human Genome, Brain Disorders, Genetic Testing, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Mental Health, Autism, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Animals, Autistic Disorder, Cells, Cultured, Child, Child, Preschool, Cohort Studies, Exome, Female, Genome-Wide Association Study, Humans, Male, Pedigree, Rats, Sequence Analysis, DNA, Young Adult, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/4ct507jw
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14Academic Journal
المؤلفون: Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L., Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V., Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A., Macnamara, Ellen F., Wolfe, Lynne A., Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo, Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Jennifer A., Tan, Queenie K.G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Malicdan, May Christine V., Tifft, Cynthia J., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., Phillips, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H.C., Wanders, Ronald J.A., Waterham, Hans R., Cassiman, David, Vaz, Frédéric M.
المصدر: Ferdinandusse , S , McWalter , K , te Brinke , H , IJlst , L , Mooijer , P M , Ruiter , J P N , van Lint , A E M , Pras-Raves , M , Wever , E , Millan , F , Guillen Sacoto , M J , Begtrup , A , Tarnopolsky , M , Brady , L , Ladda , R L , Sell , S L , Nowak , C B , Douglas , J , Tian , C , Ulm , E , Perlman , S , Drack , A ....
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15Academic Journal
المؤلفون: Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L., Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V., Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A., Macnamara, Ellen F., Wolfe, Lynne A., Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo, Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Jennifer A., Tan, Queenie K.G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Malicdan, May Christine V., Tifft, Cynthia J., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., Phillips, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H.C., Wanders, Ronald J.A., Waterham, Hans R., Cassiman, David, Vaz, Frédéric M.
المصدر: Ferdinandusse , S , McWalter , K , te Brinke , H , IJlst , L , Mooijer , P M , Ruiter , J P N , van Lint , A E M , Pras-Raves , M , Wever , E , Millan , F , Guillen Sacoto , M J , Begtrup , A , Tarnopolsky , M , Brady , L , Ladda , R L , Sell , S L , Nowak , C B , Douglas , J , Tian , C , Ulm , E , Perlman , S , Drack , A ....
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16Academic Journal
المؤلفون: Manickam, Kandamurugu, McClain, Monica R., Demmer, Laurie A., Biswas, Sawona, Kearney, Hutton M., Malinowski, Jennifer, Massingham, Lauren J., Miller, Danny, Yu, Timothy W., Hisama, Fuki M.
المصدر: Genetics in Medicine ; volume 23, issue 11, page 2029-2037 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-021-01242-6
https://www.nature.com/articles/s41436-021-01242-6.pdf
https://www.nature.com/articles/s41436-021-01242-6
https://api.elsevier.com/content/article/PII:S1098360021051686?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021051686?httpAccept=text/plain -
17Academic Journal
المؤلفون: Ching, Michael SL, Shen, Yiping, Tan, Wen‐Hann, Jeste, Shafali S, Morrow, Eric M, Chen, Xiaoli, Mukaddes, Nahit M, Yoo, Seung‐Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E, Berry, Gerard T, Driscoll, Katherine, Engle, Elizabeth C, Friedman, Sandra, Gusella, James F, Hisama, Fuki M, Irons, Mira B, Lafiosca, Tina, LeClair, Elaine, Miller, David T, Neessen, Michael, Picker, Jonathan D, Rappaport, Leonard, Rooney, Cynthia M, Sarco, Dean P, Stoler, Joan M, Walsh, Christopher A, Wolff, Robert R, Zhang, Ting, Nasir, Ramzi H, Wu, Bai‐Lin, Group, on behalf of the Children's Hospital Boston Genotype Phenotype Study
المصدر: American Journal of Medical Genetics Part B Neuropsychiatric Genetics, vol 153B. (4)
مصطلحات موضوعية: Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Autism, Brain Disorders, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Mental health, Autistic Disorder, Child, Child Development Disorders, Pervasive, Comparative Genomic Hybridization, Developmental Disabilities, Female, Humans, Intellectual Disability, Language Development Disorders, Male, Mutation, Phenotype, Schizophrenia, Sequence Deletion, NRXN1, developmental disorders, array CGH, NRXN1 exonic deletions, CNV, Children's Hospital Boston Genotype Phenotype Study Group, Clinical Sciences, Neurosciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6zj2639n
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18Academic Journal
المؤلفون: Hisama, Fuki M., Pillai, Renuka Kandhaya, Sidorova, Julia, Patterson, Karynne, Gokingco, Carolina, Yacobi-Bach, Michal, Oshima, Junko
المصدر: GeroScience; Apr2024, Vol. 46 Issue 2, p2771-2775, 5p
مصطلحات موضوعية: CASPASES, AGE of onset, SYNDROMES
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19Academic Journal
المؤلفون: Otto, Catherine M, Savla, Jainy J., Hisama, Fuki M
مصطلحات موضوعية: Education in Heart
وصف الملف: text/html
Relation: http://heart.bmj.com/cgi/content/short/106/12/938; http://dx.doi.org/10.1136/heartjnl-2019-316241
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20Academic Journal
المؤلفون: Payne, Thomas H, Zhao, Lue Ping, Le, Calvin, Wilcox, Peter, Yi, Troy, Hinshaw, Jesse, Hussey, Duncan, Kostrinsky-Thomas, Alex, Hale, Malika, Brimm, John, Hisama, Fuki M
المساهمون: REDcap, National Center for Advancing Translational Sciences/National Institutes of Health
المصدر: Journal of the American Medical Informatics Association ; volume 27, issue 9, page 1443-1449 ; ISSN 1067-5027 1527-974X
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