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1دورية أكاديمية
المؤلفون: Chen, Boli, Liu, Yue, Cai, Naiqing, Wang, Ning, Yang, KangAff1, IDs10072024075795_cor5
المصدر: Neurological Sciences. 45(9):4597-4600
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2دورية أكاديمية
المؤلفون: Farrokh, P.Aff1, IDS1022795424700273_cor1
المصدر: Russian Journal of Genetics. 60(6):828-837
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3دورية أكاديمية
المصدر: Diabetes Care; Oct2024, Vol. 47 Issue 10, p1731-1739, 9p
مصطلحات موضوعية: TYPE 2 diabetes, HEMOGLOBIN polymorphisms, PEOPLE with diabetes, MISSENSE mutation, GENETIC variation, HYPERGLYCEMIA
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4دورية أكاديمية
المؤلفون: Schnur, Rhonda E., Dvořáček, Lukáš, Kalsner, Louisa, Shapiro, Faye L., Grebeňová, Dana, Yanni, Diana, Wasserman, Barry N., Agrawal, Pankaj, Parker, Margaret, Yu, Timothy, Douglas, Jessica, Young, Vanessa, D'Gama, Alissa, Hills, Sonia, Wojcik, Monika, Brownstein, Catherine, Genetti, Casie, Schmith‐Abe, Klaus, Dyer, Lisa M., Antonarakis, Stylianos E.
المصدر: Clinical Genetics; Oct2024, Vol. 106 Issue 4, p518-524, 7p
مصطلحات موضوعية: RETROLENTAL fibroplasia, MISSENSE mutation, PROTEIN kinases, RETINAL detachment, SYMPTOMS, CELL adhesion
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5دورية أكاديمية
المؤلفون: Umair, Muhammad, Ahmed, Zaheer, Shaker, Bilal, Bilal, Muhammad, Al Abdulrahman, Abdulkareem, Khan, Hammal, Jawad Khan, Muhammad, Alfadhel, Majid
المصدر: Clinical Genetics; Oct2024, Vol. 106 Issue 4, p488-493, 6p
مصطلحات موضوعية: PROTEIN structure, POLYDACTYLY, MISSENSE mutation, MOLECULAR docking, GENETIC variation, RECESSIVE genes
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6دورية أكاديمية
المؤلفون: Greulich, Heidi, Chen, Tzu-Hsiu, Feng, Whei, Jänne, Pasi A., Alvarez, James V., Zappaterra, Mauro, Bulmer, Sara E., Frank, David A., Hahn, William C., Sellers, William R., Meyerson, Matthew
المصدر: PLoS Medicine; 9/16/2024, Vol. 21 Issue 9, p1-4, 4p
مصطلحات موضوعية: CELL transformation, EPIDERMAL growth factor receptors, MISSENSE mutation, BUSINESS names, CELL lines, ERLOTINIB
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7دورية أكاديمية
المؤلفون: Kleinfelder, Karina, Melotti, Paola, Hristodor, Anca Manuela, Fevola, Cristina, Taccetti, Giovanni, Terlizzi, Vito, Sorio, Claudio
المصدر: Orphanet Journal of Rare Diseases; 9/13/2024, Vol. 19 Issue 1, p1-13, 13p
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8دورية أكاديمية
المؤلفون: Jensen, Anne Mette G., Raska, Jan, Fojtik, Petr, Monti, Giulia, Lunding, Melanie, Bartova, Simona, Pospisilova, Veronika, van der Lee, Sven J., Van Dongen, Jasper, Bossaerts, Liene, Van Broeckhoven, Christine, Dols-Icardo, Oriol, Lléo, Alberto, Bellini, Sonia, Ghidoni, Roberta, Hulsman, Marc, Petsko, Gregory A., Sleegers, Kristel, Bohaciakova, Dasa, Holstege, Henne
المصدر: Proceedings of the National Academy of Sciences of the United States of America; 9/10/2024, Vol. 121 Issue 37, p1-12, 26p
مصطلحات موضوعية: ALZHEIMER'S disease, GENETIC testing, GENETIC variation, MISSENSE mutation, EXTRACELLULAR space
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9دورية أكاديمية
المؤلفون: Ryan, C. W., Regan, S. L., Mills, E. F., McGrath, B. T., Gong, E., Lai, Y. T., Sheingold, J. B., Patel, K., Horowitz, T., Moccia, A., Tsan, Y. C., Srivastava, A., Bielas, S. L.
المصدر: Nature Communications; 9/10/2024, Vol. 15 Issue 1, p1-20, 20p
مصطلحات موضوعية: GENETIC regulation, MISSENSE mutation, PHENOTYPES, DNA damage, CELL cycle
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10دورية أكاديمية
المؤلفون: Su, Yajie, Wang, Yaqiong, He, Jinfeng, Wang, Huijun, A, Xian, Jiang, Haili, Lu, Wei, Zhou, Wenhao, Li, Long
المصدر: BMC Medicine; 9/11/2024, Vol. 22 Issue 1, p1-12, 12p
مصطلحات موضوعية: STANDARD deviations, INBORN errors of metabolism, DIET therapy, MACHINE learning, MISSENSE mutation