العنوان البديل: Dört Aileden Pelizaeus-Merzbacher Sendromlu Altı Hastanın Klinik ve Moleküler Sitogenetik Analizleri.

المؤلفون: AKKUŞ, Nejmiye¹ drnejmiyeakkus@gmail.com, ÖZYAVUZ ÇUBUK, Pelin²

المصدر: Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi. kas2023, Vol. 17 Issue 6, p445-450. 6p.

مصطلحات موضوعية: *PELIZAEUS-merzbacher disease, *POINT mutation (Biology), *GENOTYPES

المؤلفون: Ali, Nazia A, Nema, Shrikant, Schneider, Kristan A, Krishna, Sri, Verma, Anil Kumar, Das, Aparup, Bharti, Praveen Kumar

المصدر: Journal of Infectious Diseases; 5/15/2024, Vol. 229 Issue 5, p1574-1583, 10p

مصطلحات موضوعية: PRIMAQUINE, PRINCIPAL components analysis, DRUG resistance, GENETIC mutation, DRUG utilization, POINT mutation (Biology)

مصطلحات جغرافية: INDIA, MYANMAR

المؤلفون: Huang, Yue, Boyen, Filip, Antonissen, Gunther, Vereecke, Nick, Van Immerseel, Filip

المصدر: Antibiotics (2079-6382); May2024, Vol. 13 Issue 5, p409, 15p

مصطلحات موضوعية: ENTEROCOCCUS, DRUG resistance in microorganisms, MOBILE genetic elements, WHOLE genome sequencing, PENICILLIN-binding proteins, PHENOTYPES, POINT mutation (Biology)

المؤلفون: Hemshikha Rajpurohit, Mark A. Eiteman

المصدر: Microbial Cell Factories, Vol 23, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: Batch, Repeated batch, Fermentation, Point mutation, 3-hydroxybutyrate, Microbiology, QR1-502

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1475-2859Test

الوصول الحر: https://doaj.org/article/53c52a13cb8c4173a6b8e93b88725026Test

المؤلفون: Francis, Joel, Shao, Zengyu, Narkhede, Pradnya, Trinh, Annie, Lu, Jiuwei, Song, Jikui, Gozani, Or

المصدر: Journal of Biological Chemistry. 299(7)

مصطلحات موضوعية: EEF2, EEF2KMT, FAM86A, alphafold, lysine methylation, mRNA translation, methyltransferase, protein synthesis, ribosome, translation elongation, Humans, Lysine, Methylation, Methyltransferases, Peptide Elongation Factor 2, S-Adenosylmethionine, Substrate Specificity, Protein Domains, Protein Structure, Tertiary, Models, Molecular, Crystallography, X-Ray, Point Mutation

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8mx4p8mqTest

المؤلفون: Alanna B. Cohen, Guohong Cai, Dana C. Price, Thomas J. Molnar, Ning Zhang, Bradley I. Hillman

المصدر: BMC Genomics, Vol 25, Iss 1, Pp 1-20 (2024)

مصطلحات موضوعية: Ascomycete, Plant pathogen, Repeat-induced point mutation, Mating type gene, Transposon, Effector, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2164Test

الوصول الحر: https://doaj.org/article/b4cdfa542dac4e33a24a56318ef0c258Test

المؤلفون: Lee, Hyunjung, Ozbulak, Utku, Park, Homin, Depuydt, Stephen, De Neve, Wesley, Vankerschaver, Joris

المصدر: BMC Bioinformatics; 4/30/2024, Vol. 25 Issue 1, p1-19, 19p

مصطلحات موضوعية: DEEP learning, DATA augmentation, ARTIFICIAL neural networks, POINT mutation (Biology), NONSENSE mutation, COMPUTER vision

المؤلفون: VESTBERG, NORA, RAZAVI, MOHAMMAD, GISKE, CHRISTIAN G., HONG FANG

المصدر: APMIS; Feb2024, Vol. 132 Issue 2, p94-99, 6p

مصطلحات موضوعية: MUPIROCIN, METHICILLIN-resistant staphylococcus aureus, RIFAMPIN, WHOLE genome sequencing, MICROBIAL sensitivity tests, POINT mutation (Biology)

مصطلحات جغرافية: STOCKHOLM (Sweden)

المؤلفون: Prasad, Kedar N, Bondy, Stephen C

المصدر: Journal of the American Nutrition Association. 41(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Nutrition and Dietetics, Prevention, Hematology, Nutrition, Sickle Cell Disease, Brain Disorders, Genetics, Neurodegenerative, Rare Diseases, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Anemia, Sickle Cell, Antioxidants, Hemophilia A, Humans, Huntington Disease, Inflammation, Micronutrients, Point Mutation, Trace Elements, Single-point mutation diseases, pattern of inheritance, oxidative stress, chronic inflammation, micronutrients, Nutrition & Dietetics, Nutrition and dietetics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1sd0c857Test

المؤلفون: Liu Yaofu, Zhou Jinqiu

المصدر: Acta Biochimica et Biophysica Sinica, Vol 56, Pp 315-322 (2024)

مصطلحات موضوعية: SRP14, proline mutation, point mutation, alanine-rich domain, migration, Biochemistry, QD415-436, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1672-9145Test

الوصول الحر: https://doaj.org/article/1a2758c2473b43eeb561d8cd141907ccTest