المؤلفون: Engel, Sarah Grace, Said Al-Beshri, Ali, Ananth, Amitha, Rashid, Salman

المصدر: Therapeutic Advances in Rare Disease ; volume 5 ; ISSN 2633-0040 2633-0040

الاتاحة: https://doi.org/10.1177/26330040241290907
https://journals.sagepub.com/doi/pdf/10.1177/26330040241290907
https://journals.sagepub.com/doi/full-xml/10.1177/26330040241290907

المؤلفون: Gao, Min, Chen, Yunjia, Lertwilaiwittaya, Pongtawat, Hurst, Anna, Al-Beshri, Ali, Carroll, Andrew, Mikhail, Fady

المصدر: Genetics in Medicine Open ; volume 2, page 101640 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101640
https://api.elsevier.com/content/article/PII:S2949774424007866?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424007866?httpAccept=text/plain

المؤلفون: Engel, Sarah Grace, Al-Beshri, Ali Said, Ananth, Amitha, Rashid, Salman

المصدر: Translational Science of Rare Diseases ; ISSN 2214-6490 2214-6512

الاتاحة: https://doi.org/10.1177/22146490241310373
https://journals.sagepub.com/doi/pdf/10.1177/22146490241310373
https://journals.sagepub.com/doi/full-xml/10.1177/22146490241310373

المؤلفون: Borja, Nicholas A., Tinker, Rory J., Bivona, Stephanie A., Smith, Carson A., Locker, Theodore Krijnse, Fernandes, Samuela, Acosta, Maria T., Adams, David R., Afzali, Ben, Al‐Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim

المصدر: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-7, 7p

المؤلفون: Fitzsimmons, Lane, Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allenspach, Eric, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Baldwin, Erin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar

المصدر: BioData Mining; 1/17/2025, Vol. 18 Issue 1, p1-16, 16p

مصطلحات موضوعية: PATIENTS' attitudes, RARE diseases, GENETIC variation, PHENOTYPES, SEIZURES (Medicine)

المؤلفون: Chen, Yunjia, Karaca, Ender, Robin, Nathaniel, Goodloe, Dana, Al-Beshri, Ali, Dean, S. Joy, Hurst, Anna, Carroll, Andrew, Mikhail, Fady

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100487 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100487
https://api.elsevier.com/content/article/PII:S2949774423004879?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423004879?httpAccept=text/plain

المؤلفون: McNamee, Lucy, Schoch, Kelly, Huang, Alden, Lee, Hane, Wang, Lee‐kai, Smith, Edward C., Lark, Robert K., Buckley, Anne F., Jobanputra, Vaidehi, Nelson, Stanley F., Shashi, Vandana, Acosta, Maria T., Adams, David R., Afzali, Ben, Al‐Beshri, Ali, Allenspach, Eric, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley

المصدر: American Journal of Medical Genetics. Part A; Nov2024, Vol. 194 Issue 11, p1-7, 7p

المؤلفون: Al-Beshri, Ali

المصدر: Comprehensive Precision Medicine ; page 240-248 ; ISBN 9780128242568

الاتاحة: http://dx.doi.org/10.1016/b978-0-12-824010-6.00052-6
https://api.elsevier.com/content/article/PII:B9780128240106000526?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9780128240106000526?httpAccept=text/plain

المؤلفون: Stellacci, Emilia, Carter, Jennefer N., Pannone, Luca, Stevenson, David, Moslehi, Dorsa, Venanzi, Serenella, Acosta, Maria T., Adams, David R., Afzali, Ben, Al‐Beshri, Ali, Allenspach, Eric, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin

المصدر: American Journal of Medical Genetics. Part A; Aug2024, Vol. 194 Issue 8, p1-7, 7p

المؤلفون: Ezell, Kimberly M., Tinker, Rory J., Furuta, Yutaka, Gulsevin, Alican, Bastarache, Lisa, Hamid, Rizwan, Cogan, Joy D., Rives, Lynette, Neumann, Serena, Corner, Brian, Kozuria, Mary, Phillips, John A., Adams, David R., Afzali, Ben, Al‐Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A.

المصدر: American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-6, 6p

المؤلفون: Gao, Min, Chen, Yunjia, Lertwilaiwittaya, Pongtawat, Hurst, Anna C. E., Al‐Beshri, Ali, Carroll, Andrew J., Mikhail, Fady M.

المصدر: American Journal of Medical Genetics Part A ; ISSN 1552-4825 1552-4833

الاتاحة: https://doi.org/10.1002/ajmg.a.63951
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63951

المؤلفون: Chen, Yunjia, Karaca, Ender, Robin, Nathaniel H., Goodloe, Dana, Al-Beshri, Ali, Dean, S. Joy, Hurst, Anna C.E., Carroll, Andrew J., Mikhail, Fady M.

المساهمون: University of Alabama, University of Alabama at Birmingham

المصدر: Genetics in Medicine ; volume 26, issue 1, page 101010 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2023.101010
https://api.elsevier.com/content/article/PII:S1098360023010262?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023010262?httpAccept=text/plain

المؤلفون: Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frederic, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna, Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju, Chung, Wendy, Devriendt, Koenraad, Holder, Susan, Jewett, Tamison, Baldwin, Lauren, Wilson, William, Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah, Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer, Shashi, Vandana, Koudijs, Suzanne, Heijligers, Malou, Kivuva, Emma, Mctague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie, Houge, Gunnar, Janssens, Veerle

المساهمون: Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Queen Elizabeth University Hospital (Glasgow), Kennedy Krieger Institute Baltimore, University of Antwerp (UA), Universität Zürich Zürich = University of Zurich (UZH), Addenbrooke’s Hospital Cambridge, UK, Columbia University Medical Center (CUMC), Columbia University New York, North West Thames Regional Genetics Service London, UK (Harrow), North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow-Northwick Park Hospital Harrow, UK (NPH), Wake Forest University, University of Virginia, Boston Children's Hospital, Prenatal Medicine Munich Munich, Germany (PMM), Klinikum Dritter Orden Munich, Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), University Hospital of Wales (UHW), University of Alabama at Birmingham Birmingham (UAB), Le Bonheur Children's Hospital Memphis, TN, USA (LBCH), Schneider Children’s Medical Center of Israel Petah Tikva, Sackler Faculty of Medicine, Tel Aviv University (TAU), Leeds Teaching Hospitals NHS Trust, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Maison de Santé Protestante de Bordeaux-Bagatelle (MSPB), Duke University Medical Center, Maastricht University Medical Centre (MUMC), Maastricht University Maastricht, Royal Devon and Exeter NHS Foundation Trust UK, Great Ormond Street Institute of Child Health (UCL), University College of London London (UCL), Erasmus University Medical Center Rotterdam (Erasmus MC), Medical University Graz, Institut de Pathologie et Génétique Gosselies (I.P.G.), Vanderbilt University Medical Center Nashville, Vanderbilt University Nashville, Haukeland University Hospital, University of Bergen (UiB), Leuven Brain Institute Leuven, Belgium (LBI)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: PPP2R1A, PP2A, intellectual disability, neurodevelopmental disorder, epilepsy, [SDV]Life Sciences [q-bio], [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/33106617; inserm-03273405; https://inserm.hal.science/inserm-03273405; https://inserm.hal.science/inserm-03273405/document; https://inserm.hal.science/inserm-03273405/file/s41436-020-00981-2.pdf; PUBMED: 33106617; PUBMEDCENTRAL: PMC7862067

الاتاحة: https://inserm.hal.science/inserm-03273405
https://inserm.hal.science/inserm-03273405/document
https://inserm.hal.science/inserm-03273405/file/s41436-020-00981-2.pdf
https://doi.org/10.1038/s41436-020-00981-2

المؤلفون: Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy, Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison M., van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle, Universitat Autònoma de Barcelona

مصطلحات موضوعية: PPP2R1A, PP2A, Intellectual disability, Neurodevelopmental disorder, Epilepsy

وصف الملف: application/pdf

Relation: Genetics in medicine; Vol. 23 Num. 2 (feb. 2021), p. 352-362; https://ddd.uab.cat/record/238621; urn:10.1038/s41436-020-00981-2; urn:oai:ddd.uab.cat:238621; urn:pmcid:PMC7862067; urn:pmc-uid:7862067; urn:pmid:33106617; urn:articleid:15300366v23n2p352; urn:oai:pubmedcentral.nih.gov:7862067

الاتاحة: https://ddd.uab.cat/record/238621

المؤلفون: Alshehri, Merai, Al Beshri, Ali, Bamefleh, Dania

المصدر: Cureus ; ISSN 2168-8184

الاتاحة: http://dx.doi.org/10.7759/cureus.36303
https://www.cureus.com/articles/141235-haptic-amputation-under-endoscopic-guidance-in-uveitis-glaucoma-hyphema-syndrome-a-case-report

المؤلفون: Al-Rawi, Rawan, Al-Beshri, Ali, Mikhail, Fady M., McCormick, Kenneth

المصدر: Calcified Tissue International ; volume 106, issue 5, page 567-573 ; ISSN 0171-967X 1432-0827

الاتاحة: http://dx.doi.org/10.1007/s00223-020-00668-5
http://link.springer.com/content/pdf/10.1007/s00223-020-00668-5.pdf
http://link.springer.com/article/10.1007/s00223-020-00668-5/fulltext.html

المؤلفون: Mulvihill, John J., Findley, Laura, Ni, Weihong, Sinsheimer, Janet S., Cole, F. Session, Esteves, Cecilia, Bernstein, Jonathan A., Newman, John H., Wheeler, Matthew T., Mokry, Jill R., Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, 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, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Botto, Lorenzo, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Callaway, Kaitlin, Carey, John, Carvalho, George, Cassini, Thomas, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Corner, Brian, Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cuddapah, Vishnu, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Delgado, Margaret, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douglas, Jessica, Douine, Emilie D., Earl, Dawn, Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Gahl, William A., Ganetzky, Rebecca, Glanton, Emily, Glass, Ian, Goddard, Page C., Gonzalez, Joanna M., Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean-, Jobanputra, Vaidehi, Kaitryn, Emerald, Kanca, Oguz, Karasozen, Yigit, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korf, Bruce, Korrick, Susan, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latchman, Kumarie, LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Peart, LéShon, Petcharet, Leoyklang, Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rodriguez, Martin, Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Skelton, Tammi, Skraban, Cara, Smith, Carson A., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, 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., Wood, Heidi, Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan

المصدر: Genetics in Medicine; October 2024, Vol. 26 Issue: 10

المؤلفون: Al-Beshri, Ali Said, Robin, Nathaniel H.

المصدر: DeckerMed Obstetrics and Gynecology

الاتاحة: http://dx.doi.org/10.2310/obg.19143

المؤلفون: Al-Beshri, Ali S., Edward, Deepak P., Haiti, Khitam Al, Craven, Earl R.

المصدر: Journal of Glaucoma ; volume 27, issue 5, page 450-454 ; ISSN 1057-0829

الاتاحة: http://dx.doi.org/10.1097/ijg.0000000000000940
https://journals.lww.com/00061198-201805000-00010

المؤلفون: Campbell, Teresa, Lou, Xiaoting, Slone, Jesse, Brown, Jenice, Bromwell, Meghan, Liu, Jie, Bai, Renkui, Haude, Katrina, Balog, Amanda, Cui, Hong, Zou, Weiwei, Yang, Li, Al‐Beshri, Ali, Huang, Taosheng

المصدر: Human Mutation; Feb2021, Vol. 42 Issue 2, p177-188, 12p