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

العلاقة: http://jmg.bmj.com/cgi/content/short/60/11/1092Test; http://dx.doi.org/10.1136/jmg-2022-109127Test

الإتاحة: https://doi.org/10.1136/jmg-2022-109127Test
http://jmg.bmj.com/cgi/content/short/60/11/1092Test

المؤلفون: Rajan-Babu, Indhu-Shree, Peng, Junran J., Chiu, Readman, Birch, Patricia, Couse, Madeline, Guimond, Colleen, Lehman, Anna, Mwenifumbo, Jill, van Karnebeek, Clara, Friedman, Jan, Adam, Shelin, Du Souich, Christele, Elliott, Alison, Nelson, Tanya, Rajan-Babu, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A., Birol, Inanc, Friedman, Jan M.

المصدر: Genome Medicine ; volume 13, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-021-00961-4Test

المؤلفون: Rajan-Babu, Indhu-Shree, Peng, Junran J., Chiu, Readman, Birch, Patricia, Couse, Madeline, Guimond, Colleen, Lehman, Anna, Mwenifumbo, Jill, van Karnebeek, Clara, Friedman, Jan, Adam, Shelin, Souich, Christele Du, Elliott, Alison, Nelson, Tanya, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A., Birol, Inanc, Friedman, Jan M.

المساهمون: BC Children’s Hospital Foundation, Genome British Columbia, Canadian Institutes of Health Research, Michael Smith Foundation for Health Research, Rare Disease Foundation

المصدر: Genome Medicine ; volume 13, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-021-00932-9Test

المؤلفون: Chalazan, Brandon, Freeth, Emma, Mohajeri, Arezoo, Ramanathan, Krishnan, Bennett, Matthew, Walia, Jagdeep, Halperin, Laura, Roston, Thomas, Lazarte, Julieta, Hegele, Robert A., Lehman, Anna, Laksman, Zachary

المصدر: European Journal of Human Genetics ; volume 31, issue 7, page 769-775 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-023-01383-zTest
https://www.nature.com/articles/s41431-023-01383-z.pdfTest
https://www.nature.com/articles/s41431-023-01383-zTest

المؤلفون: Vaseghi-Shanjani, Maryam, Mohajeri, Arezoo, Rosenfeld, Jill A., Lu, Henry, Sharma, Mehul, Lalani, Seema, Nicholas, Sarah, Scott, Daryl A., Turvey, Stuart, Lehman, Anna

المصدر: Clinical Immunology ; volume 250, page 109546 ; ISSN 1521-6616

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1016/j.clim.2023.109546Test
https://api.elsevier.com/content/article/PII:S1521661623003546?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1521661623003546?httpAccept=text/plainTest

المؤلفون: Kallas, Dania, Bos, Johan Martijn, Peltenburg, Puck, Franciosi, Sonia, Mohajeri, Arezoo, Cheung, Matthew, Brett, Laura, York, Nicole, Sanchez-Arias, Juan, Swayne, Leigh Anne, Arbour, Laura, Tester, David, Tibbits, Glen F., Lehman, Anna, Wilde, Arthur A.M., Ackerman, Michael John, Sanatani, Shubhayan

المصدر: Heart Rhythm ; volume 19, issue 5, page S264-S265 ; ISSN 1547-5271

مصطلحات موضوعية: Physiology (medical), Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/j.hrthm.2022.03.275Test
https://api.elsevier.com/content/article/PII:S1547527122005008?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1547527122005008?httpAccept=text/plainTest

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, Turvey, Stuart E, Lehman, Anna

المصدر: Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 11 p1092-1104, 13p

المؤلفون: Rajan-Babu, Indhu-Shree, Peng, Junran J., Chiu, Readman, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A., Birol, Inanc, Friedman, Jan M.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e782c6a60a956e7d177c0f9eebd0b6eTest

المؤلفون: Rajan-Babu, Indhu-Shree, Peng, Junran J., Chiu, Readman, Li, Chenkai, Mohajeri, Arezoo, Dolzhenko, Egor, Eberle, Michael A., Birol, Inanc, Friedman, Jan M.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0280706070e6daad09de378c6c2ce1e4Test

المؤلفون: Mohajeri, Arezoo, Tayebwa, Johnbosco, Collin, Anna, Nilsson, Jenny, Magnusson, Linda, Vult von Steyern, Fredrik, Brosjö, Otte, Domanski, Henryk, Larsson, Olle, Sciot, Raf, Debiec-Rychter, Maria, Hornick, Jason L, Mandahl, Nils, Hansén Nord, Karolin, GCC Klinisk genetik, Fredrik Mertens

المصدر: Genes, Chromosomes and Cancer. 52(10):873-886

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics, Klinisk medicin, Cancer och onkologi, Clinical Medicine, Cancer and Oncology

الوصول الحر: https://lup.lub.lu.se/record/3913440Test
http://www.ncbi.nlm.nih.gov/pubmed/23761323?dopt=AbstractTest
http://dx.doi.org/10.1002/gcc.22083Test