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المؤلفون: Bruna Los, Glaucio Monteiro Ferreira, Jéssica Bassani Borges, Thales Kronenberger, Victor Fernandes de Oliveira, Carolina Dagli-Hernandez, Raul Hernandes Bortolin, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Augusto Akira Mori, Thais Kristini Almendros Barbosa, Renata Caroline Costa de Freitas, Cinthia Elim Jannes, Alexandre da Costa Pereira, Gisele Medeiros Bastos, Antti Poso, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hirata
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Hyperlipoproteinemia Type II, Receptors, LDL, MODELAGEM MOLECULAR, Genetics, Mutation, Missense, Molecular Conformation, Humans, General Medicine, Proprotein Convertase 9
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b941002e650b8f59d044bcc6cf1b87Test
https://pubmed.ncbi.nlm.nih.gov/36261084Test -
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المؤلفون: Cong Ding, Junlin Ma, Huixuan Yan, Yizhu Meng, Xinglei Qi, Kaixing Qu, Fuqiang Li, Jicai Zhang, Basang Zhuzha, Suolang Quji, Ningbo Chen, Bizhi Huang, Chuzhao Lei
المصدر: Gene. 835:146643
مصطلحات موضوعية: Melanins, Plant Breeding, Gene Frequency, Genotype, Mutation, Missense, Genetics, Animals, Cattle, General Medicine, Polymorphism, Single Nucleotide
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9541d3757829f06cf362b423073992cdTest
https://doi.org/10.1016/jTest.gene .2022.146643 -
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المؤلفون: Arvand Akbari, Seyedeh Zoha Tabatabaei, Najmeh Salehi, Kimiya Padidar, Navid Almadani, Mohammad Ali Sadighi Gilani, Mehri Mashayekhi, Elahe Motevaseli, Mehdi Totonchi
المصدر: Gene. 821:146281
مصطلحات موضوعية: Adult, Male, Models, Molecular, STAT3 Transcription Factor, Binding Sites, Protein Conformation, Mutation, Missense, General Medicine, Iran, Primary Ovarian Insufficiency, Pedigree, Consanguinity, Exome Sequencing, Genetics, Humans, Female, Genetic Association Studies, Azoospermia, Sequence Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89a5d181a33403fe62b44e926fb5860fTest
https://doi.org/10.1016/jTest.gene .2022.146281 -
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المؤلفون: Amor García Banacloy, David Albuquerque, Clara Vidal Garcia, Raquel Rodríguez-López, Goitzane Marcaida Benito, Marcos Bruna Esteban, Carola Guzmán Luján, Carlos Sánchez Juan, Fátima Gimeno-Ferrer
المصدر: Gene. 704:74-79
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Obesity phenotype, In silico, DNA Mutational Analysis, Mutation, Missense, Overweight, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Gene, Genetic Association Studies, Mutation, Promoter, General Medicine, Middle Aged, medicine.disease, Obesity, Obesity, Morbid, Pedigree, 030104 developmental biology, Spain, Case-Control Studies, 030220 oncology & carcinogenesis, Cohort, Receptor, Melanocortin, Type 4, Female, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e1d09a65ec7713d5781286eef3668eTest
https://doi.org/10.1016/jTest.gene .2019.04.018 -
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المؤلفون: Meirong Lu, Ning Liao, Yonghong Lei, Siyuan Jia, Hongying Wei, Yunyan He, Kairong Liang, Nikuze Lauriane
المصدر: Gene. 702:143-147
مصطلحات موضوعية: Adult, Blood Platelets, Male, 0301 basic medicine, Proband, Mutant, Mutation, Missense, Gene mutation, Biology, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Humans, Missense mutation, Factor XIII deficiency, Child, Aged, Sequence Deletion, Factor XIII, Blood Proteins, General Medicine, Middle Aged, medicine.disease, Factor XIII Deficiency, Pedigree, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c02620526ae5c0462d0d9a3b8691bf9Test
https://doi.org/10.1016/jTest.gene .2019.03.067 -
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المؤلفون: Wei Xiao, Xue Zhang, Xinru Li, Xiaolu Meng, Zixun Song, Nuo Si
المصدر: Gene. 692:113-118
مصطلحات موضوعية: Male, Transcriptional Activation, 0301 basic medicine, Mutation, Missense, Vesicular Transport Proteins, Cataract Extraction, Biology, medicine.disease_cause, Cataract, beta-Crystallin A Chain, 03 medical and health sciences, Transactivation, 0302 clinical medicine, Protein Domains, Crystallin, Genetics, medicine, Humans, Missense mutation, Gene, Mutation, Binding Sites, High-Throughput Nucleotide Sequencing, General Medicine, DNA-binding domain, Congenital nuclear cataract, Crystallins, Phenotype, Pedigree, 030104 developmental biology, Proto-Oncogene Proteins c-maf, 030220 oncology & carcinogenesis, Female, Heme Oxygenase-1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::189a9b8a702ff768009236bfe672e39eTest
https://doi.org/10.1016/jTest.gene .2019.01.011 -
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المؤلفون: Douglas Law, Ahmad Azfaralariff, Sabika Firasat, Nahid Khalili, Muhammad Zubair, Muhammad Shahid, Ahmed Abdulkareem Najm, Shazrul Fazry
المصدر: Gene. 812:146104
مصطلحات موضوعية: Models, Molecular, congenital, hereditary, and neonatal diseases and abnormalities, Protein Conformation, In silico, Mutation, Missense, Biology, FANCG, Fanconi anemia, hemic and lymphatic diseases, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Fanconi Anemia Complementation Group G Protein, Gene, Genetic Association Studies, Binding Sites, Fanconi Anemia Complementation Group A Protein, Protein Stability, Fanconi Anemia Complementation Group C Protein, Computational Biology, nutritional and metabolic diseases, General Medicine, medicine.disease, FANCA, Fanconi Anemia, DNA mismatch repair, Homologous recombination
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e12659865e395b1bf0c993eaf1ea9a2cTest
https://doi.org/10.1016/jTest.gene .2021.146104 -
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المؤلفون: Ishtiaq Ahmad Khan, Muhammad Shakeel, Muhammad Irfan
المصدر: Gene. 673:134-139
مصطلحات موضوعية: Cardiomyopathy, Dilated, 0301 basic medicine, Linkage disequilibrium, Mutation, Missense, 030204 cardiovascular system & hematology, Biology, Polymorphism, Single Nucleotide, Risk Assessment, Linkage Disequilibrium, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Humans, Missense mutation, Connectin, Exome, Pakistan, Allele, Frameshift Mutation, Allele frequency, Alleles, Exome sequencing, Aged, Myocardium, Tumor Suppressor Proteins, Homozygote, Intracellular Signaling Peptides and Proteins, Genetic Variation, Dilated cardiomyopathy, General Medicine, Middle Aged, medicine.disease, Neoplasm Proteins, 030104 developmental biology, Mutation, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdf582aa02ed7bb7847bf244599d71e3Test
https://doi.org/10.1016/jTest.gene .2018.06.019 -
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المؤلفون: Ying Bai, Fangxia Guan, Ning Liu, Xiangdong Kong, Yanan Zong, Shanshan Ma
المصدر: Gene. 668:135-139
مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, Phenylalanine hydroxylase, Mutant, Mutation, Missense, 030105 genetics & heredity, Biology, 03 medical and health sciences, Western blot, Transcription (biology), Escherichia coli, polycyclic compounds, Genetics, medicine, Humans, Amino Acid Sequence, Gene, medicine.diagnostic_test, Wild type, Computational Biology, Phenylalanine Hydroxylase, General Medicine, Molecular biology, Enzyme structure, Reverse transcription polymerase chain reaction, HEK293 Cells, 030104 developmental biology, Child, Preschool, Mutagenesis, Site-Directed, biology.protein, Sequence Alignment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d629394c2f1081998cad793a0614938Test
https://doi.org/10.1016/jTest.gene .2018.03.078 -
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المؤلفون: Desheng Liang, Hu Tan, Yingxi Cao, Zhuo Li, Lingqian Wu, Siyuan Linpeng, Rui Zhang
المصدر: Gene. 669:42-46
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Mutation, Missense, 030209 endocrinology & metabolism, Biology, Asymptomatic, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Hypogonadotropic hypogonadism, Internal medicine, Genetics, medicine, Humans, Child, Exome sequencing, Sanger sequencing, Hypogonadism, Homozygote, GNRHR, General Medicine, Micropenis, medicine.disease, Protein Transport, HEK293 Cells, 030104 developmental biology, Endocrinology, Child, Preschool, Mutation (genetic algorithm), symbols, Calcium, Female, medicine.symptom, Receptors, LHRH, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0984688711142e3b8ddb13618a9c4d94Test
https://doi.org/10.1016/jTest.gene .2018.05.050