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1دورية أكاديمية
المؤلفون: Yue Shan, Shelley A. Cole, Karin Haack, Phillip E. Melton, Lyle G. Best, Christopher Bizon, Sayuko Kobes, Çiğdem Köroğlu, Leslie J. Baier, Robert L. Hanson, Serena Sanna, Yun Li, Nora Franceschini
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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المؤلفون: Robert L. Hanson, Clifton Bogardus, Nehal Gosalia, Leslie J. Baier, Robert C. Williams, Alan R. Shuldiner, Cristopher V. Van Hout, Çiğdem Köroğlu, William C. Knowler
المصدر: Hum Immunol
مصطلحات موضوعية: 0301 basic medicine, Genotype, Immunology, Population, Population genetics, Human leukocyte antigen, Biology, Article, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, HLA Antigens, Humans, Immunology and Allergy, education, Allele frequency, American Indian or Alaska Native, Genetic association, Genetics, education.field_of_study, Whole Genome Sequencing, Histocompatibility Testing, Haplotype, Arizona, High-Throughput Nucleotide Sequencing, General Medicine, HLA-A, Genetics, Population, 030104 developmental biology, Genetic Loci, Algorithms, 030215 immunology
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المؤلفون: Robert L. Hanson, Leslie J. Baier, Nehal Gosalia, Hye In Kim, Çiğdem Köroğlu, Bin Ye, Alan R. Shuldiner, Clifton Bogardus, Cristopher V. Van Hout, Wen-Chi Hsueh, William C. Knowler
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, 0301 basic medicine, Nonsynonymous substitution, Candidate gene, Population, 030209 endocrinology & metabolism, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Article, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Southwestern United States, Genetics, Humans, Exome, Genetic Predisposition to Disease, Allele, education, Alleles, Genetics (clinical), Exome sequencing, Genetic association, education.field_of_study, Genetics, Population, Phenotype, 030104 developmental biology, Indians, North American, Female, Genome-Wide Association Study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe168476b5b8dcc129db8d3372eacc4f
https://doi.org/10.1016/j.ajhg.2020.06.009 -
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المؤلفون: Leslie J. Baier, William C. Knowler, Clifton Bogardus, Sayuko Kobes, Samantha E. Day, Alan R. Shuldiner, Hye In Kim, Darin Mahkee, Nehal Gosalia, Yunhua L. Muller, Kim Wiedrich, Cris Van Hout, Robert L. Hanson, Bin Ye, Çiğdem Köroğlu
المصدر: Obesity (Silver Spring, Md.)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Endocrinology, Diabetes and Metabolism, Medicine (miscellaneous), 030209 endocrinology & metabolism, BBS9, Biology, In vitro analysis, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Bardet–Biedl syndrome, Genetic variation, medicine, Humans, Exome, 030212 general & internal medicine, Obesity, Allele, Gene, Bardet-Biedl Syndrome, Exome sequencing, American Indian or Alaska Native, Genetics, Nutrition and Dietetics, Epidemiology/Genetics, Original Articles, medicine.disease, Female, Original Article
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المؤلفون: Nehal Gosalia, Çiğdem Köroğlu, Sayuko Kobes, Samantha E. Day, William C. Knowler, Leslie J. Baier, Cristopher V. Van Hout, Clifton Bogardus, Robert L. Hanson, Alan R. Shuldiner, Yunhua L. Muller, Hye In Kim
المصدر: Diabetes. 69
مصطلحات موضوعية: Oncology, education.field_of_study, medicine.medical_specialty, Lipid accumulation, business.industry, Endocrinology, Diabetes and Metabolism, Population, medicine.disease, Frameshift mutation, Data sequences, Adipogenesis, Diabetes mellitus, Internal medicine, Internal Medicine, medicine, education, business, Body mass index, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ef6a763933e598b7820da12437a38a94
https://doi.org/10.2337/db20-1977-p -
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المؤلفون: Wen-Chi Hsueh, Leslie J. Baier, Clifton Bogardus, William C. Knowler, Nehal Gosalia, Robert L. Hanson, Cristopher V. Van Hout, Alan R. Shuldiner, Çiğdem Köroğlu, Hye In Kim, Bin Ye
مصطلحات موضوعية: Genetics, Nonsynonymous substitution, Candidate gene, Genome-wide association study, Biology, Allele, Gene, Exome, Genetic architecture, Exome sequencing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb0ada9d5b188fde7e2ec47d9c322b6
https://doi.org/10.1101/2020.02.21.938936 -
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المؤلفون: Pankaj Kumar, Clifton Bogardus, Hye In Kim, Jeff Sutherland, Cristopher V. Van Hout, Jonathan Krakoff, Paolo Piaggi, Alan R. Shuldiner, Çiğdem Köroğlu, Sayuko Kobes, William C. Knowler, Yunhua L. Muller, Leslie J. Baier, Nehal Gosalia, Marcus B. Jones, Robert L. Hanson, Anup K. Nair, Wen-Chi Hsueh
المصدر: J Clin Endocrinol Metab
مصطلحات موضوعية: Adult, D-Amino-Acid Oxidase, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, Clinical Biochemistry, Nonsense, Nonsense mutation, Energy metabolism, Protein degradation, Biology, Biochemistry, Young Adult, Endocrinology, Gene Frequency, Internal medicine, Exome Sequencing, energy expenditure, energy metabolism, medicine, Humans, Exome, Obesity, whole-exome sequencing, Allele, Online Only Articles, Exome sequencing, Alleles, American Indian or Alaska Native, media_common, Genetic association, respiratory quotient, Biochemistry (medical), thrifty metabolic phenotype, Glucose Tolerance Test, Middle Aged, medicine.disease, Codon, Nonsense, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0390feb6fa9051c148a669d0a3536d12
http://hdl.handle.net/11568/1051090 -
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المؤلفون: Michael Traurig, Peng Chen, Jonathan Krakoff, Leslie J. Baier, Emma J. Stinson, Paolo Piaggi, Çiğdem Köroğlu, Marci E. Gluck, Clifton Bogardus, Susanne B. Votruba
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Candidate gene, FOOD-INTAKE, Genotype, Medicine (miscellaneous), 030209 endocrinology & metabolism, Locus (genetics), Biology, Polymorphism, Single Nucleotide, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Orexin Receptors, Internal medicine, Genetic variation, medicine, Humans, Genetic Predisposition to Disease, CARBOHYDRATE OXIDATION, Allele, American Indian or Alaska Native, 030109 nutrition & dietetics, Nutrition and Dietetics, PITUITARY-ADRENAL-AXIS, PHYSICAL-ACTIVITY, WEIGHT-GAIN, OBESITY, HUNGER, SLEEP, Feeding Behavior, medicine.disease, Obesity, Endocrinology, Expression quantitative trait loci, Indians, North American, Body mass index
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92124f057007c4b710cd2b31e126b843
http://hdl.handle.net/11568/1042512 -
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المصدر: neurogenetics. 18:237-243
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Genotype, Mutation, Missense, Disease, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Asian People, Genetic linkage, Genetics, medicine, Humans, Missense mutation, Amyotrophic lateral sclerosis, Gene, Genetics (clinical), Amyotrophic Lateral Sclerosis, Chromosome Mapping, Exons, Middle Aged, medicine.disease, Human genetics, Phosphotransferases (Alcohol Group Acceptor), Phenotype, 030104 developmental biology, Mutation, Mutation (genetic algorithm), 030217 neurology & neurosurgery
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المؤلفون: Vesa M. Olkkonen, Elina Ikonen, Bülent Kara, Ayse Guven, Hülya Maraş Genç, Karita Peltonen, Ruchama C. Steinberg, Seyhun Solakoglu, Kristiina Kanerva, You Zhou, Maarit Hölttä-Vuori, Marikki Laiho, Tuğba Kotil, Aslıhan Tolun, Çiğdem Köroğlu
المصدر: European Journal of Human Genetics. 25:315-323
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Receptors, Steroid, medicine.medical_specialty, Ataxia, Developmental Disabilities, Mutation, Missense, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, Genetic linkage, Genetics, medicine, Humans, Missense mutation, Child, Cells, Cultured, Genetics (clinical), Exome sequencing, Cerebral atrophy, Psychomotor retardation, Siblings, Homozygote, Leukodystrophy, DNA-Directed RNA Polymerases, Syndrome, Fibroblasts, medicine.disease, R1, Pedigree, 3. Good health, Cholesterol, 030104 developmental biology, Medical genetics, Female, medicine.symptom, 030217 neurology & neurosurgery
وصف الملف: application/pdf