-
1
المؤلفون: Dawei Jiang, Hongli Du, Shuhua Li, Meiling Hu, Jerome R Lon, Wei Liu, Binbin Xi, Yuting Huang, Yuhuan Meng, Yimo Qu, Shudai Lin, Lizhen Huang, Yunmeng Bai
المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 1976-1985 (2021)
Computational and Structural Biotechnology Journalمصطلحات موضوعية: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Biophysics, Computational biology, Biology, Biochemistry, Genome, Article, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, Epidemic trends, Genetics, Key mutations, 030304 developmental biology, ComputingMethodologies_COMPUTERGRAPHICS, 0303 health sciences, SARS-CoV-2, Haplotype, Automated tool, Pathogenicity, Computer Science Applications, Candidate key, 030220 oncology & carcinogenesis, New mutation, Mutation (genetic algorithm), Key (cryptography), TP248.13-248.65, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22ad809cb934c122dd1cb5313719ea2Test
http://www.sciencedirect.com/science/article/pii/S2001037021001082Test -
2
المؤلفون: Yi-Heng Zhu, Jian Xu Data, Fang Ge, Dong-Jun Yu, Arif Muhammad, Jiangning Song
المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 6400-6416 (2021)
Computational and Structural Biotechnology Journalمصطلحات موضوعية: Pred-MutHTP, prediction of mutations in human transmembrane proteins, fathmm, functional analysis through hidden markov models, 1000 Genomes, 1000 genomes project consortium, Computer science, SNAP, screening for non-acceptable polymorphisms, Condel, consensus deleteriousness score of missense mutations, ClinVar, clinical variants, medicine.disease_cause, Biochemistry, PROVEAN, protein variation effect analyzer, Structural Biology, Entprise, entropy and predicted protein structure, Feature (machine learning), Missense mutation, SwissVar, variants in UniProtKB/Swiss-Prot, REVEL, rare exome variant ensemble learner, Mutation, Cascade XGBoost, Transmembrane protein, Computer Science Applications, TMSNP, transmembrane single nucleotide polymorphisms, APOGEE, pathogenicity prediction through the logistic model tree, Cascade, New mutation, Research Article, Biotechnology, PolyPhen-2, polymorphism phenotyping v2, Mutation prediction, PredictSNP1, predict single nucleotide polymorphism v1, Biophysics, COSMIC, catalogue of somatic mutations in cancer, Computational biology, SDM, site-directed mutate, Encoding (memory), Classifier (linguistics), Genetics, medicine, ComputingMethodologies_COMPUTERGRAPHICS, PolyPhen, polymorphism phenotyping, Protein evolutionary information, BorodaTM, boosted regression trees for disease-associated mutations in transmembrane proteins, humsavar, human polymorphisms and disease mutations, SIFT, sorting intolerant from tolerant, ExAC, the exome aggregation consortium, WEKA, waikato environment for knowledge analysis, SNP&GO, single nucleotide polymorphisms and gene ontology annotations, Meta-SNP, meta single nucleotide polymorphism, Disease-associated mutations, TP248.13-248.65
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ab4583865fc088881c6f516bb043a13Test
http://www.sciencedirect.com/science/article/pii/S200103702100489XTest -
3
المؤلفون: Martine J. van Belzen, Emilia K. Bijlsma, Irene M. van Langen, R. D. M. Belfroid, Alicia Semaka, Monique Losekoot, Chris Kay, Michael R. Hayden, Merel C. van Maarle, Mayke Oosterloo
المساهمون: Human Genetics, Ethical, Legal, Social Issues in Genetics (ELSI), Reproductive Origins of Adult Health and Disease (ROAHD), Health Psychology Research (HPR), MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience
المصدر: European Journal of Medical Genetics, 58(1), 28-30
European journal of medical genetics, 58(1), 28-30. Elsevier Masson SAS
European journal of medical genetics, 58(1), 28-30. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 58(1), 28-30. Elsevierمصطلحات موضوعية: Male, haplotype, medicine.disease_cause, Fathers, 0302 clinical medicine, cognitive defect, differential diagnosis, Cognitive decline, Genetics (clinical), Genetics, CAG repeat, 0303 health sciences, Huntingtin Protein, Maternal Transmission, New mutation, allele, article, General Medicine, Huntington disease, Penetrance, HTT gene, 3. Good health, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, heredity, Genetic counseling, Mothers, Nerve Tissue Proteins, Biology, Intermediate allele, 03 medical and health sciences, Heredity, mental disorders, medicine, case report, Humans, human, Allele, penetrance, gene, paternity test, Alleles, 030304 developmental biology, Huntington chorea, genetic counseling, Maternal CAG repeat expansion, Haplotype, Mutation, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery, dementia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df59443abf8a5b9ba54f35d6cfcc8a36Test
https://cris.maastrichtuniversity.nl/en/publications/dde7a46a-dee0-4956-8d07-179a756d8db7Test -
4
المصدر: Anales de Pediatría, Vol 81, Iss 6, Pp e46-e47 (2014)
مصطلحات موضوعية: Genetics, CHARGE syndrome, Chd7 gene, Pediatrics, Perinatology and Child Health, New mutation, medicine, Biology, medicine.disease, Pediatrics, RJ1-570
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d356975a83c0dfe08d08f9a25d8ab27Test
http://www.sciencedirect.com/science/article/pii/S1695403314000927Test -
5
المصدر: Anales de Pediatría, Vol 82, Iss 3, Pp 207-208 (2015)
مصطلحات موضوعية: Genetics, Pediatrics, Perinatology and Child Health, New mutation, medicine, Biology, medicine.disease, Gene, Fraser syndrome, Pediatrics, RJ1-570
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::622f6f2d0f80135b9bbb94f45f04d759Test
http://www.sciencedirect.com/science/article/pii/S169540331400215XTest -
6
المؤلفون: Jean Mariani, Constantino Sotelo
مصطلحات موضوعية: Genetics, Cerebellum, medicine.anatomical_structure, Research strategies, Mutant, New mutation, medicine, Identification (biology), Disease, Biology, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f7d99115b84fb72433e7377fcdb47a89Test
https://doi.org/10.1016/s0921-0709Test(99)80014-5