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1. Full Text Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
by Saxena, Richa and Elbers, Clara C and Guo, Yiran and Peter, Inga and Gaunt, Tom R and Mega, Jessica L and Lanktree, Matthew B and Tare, Archana and Castillo, Berta Almoguera and Li, Mingyao and Li, Yun R and Johnson, Julie A and Johnson, Toby and Bruinenberg, Marcel and Gilbert-Diamond, Diane and Rajagopalan, Ramakrishnan and Voight, Benjamin F and Balasubramanyam, Ashok and Barnard, John and Bauer, Florianne and Baumert, Jens and Bhangale, Tushar and Böhm, Bernhard O and Braund, Peter S and Burton, Paul R and Chandrupatla, Hareesh R and Clarke, Robert and Cooper-DeHoff, Rhonda M and Crook, Errol D and Davey-Smith, George and Day, Ian N and de Boer, Anthonius and de Groot, Mark C.H and Drenos, Fotios and Ferguson, Jane and Fox, Caroline S and Furlong, Clement E and Gibson, Quince and Gieger, Christian and Gilhuijs-Pederson, Lisa A and Glessner, Joseph T and Goel, Anuj and Gong, Yan and Grant, Struan F.A and Grobbee, Diederick E and Hastie, Claire and Humphries, Steve E and Kim, Cecilia E and Kivimaki, Mika and Kleber, Marcus and Meisinger, Christa and Kumari, Meena and Langaee, Taimour Y and Lawlor, Debbie A and Lobmeyer, Maximilian T and Maitland-van der Zee, Anke-Hilse and Meijs, Matthijs F.L and Molony, Cliona M and Morrow, David A and Murugesan, Gurunathan and Musani, Solomon K and Nelson, Christopher P and Newhouse, Stephen J and O'Connell, Jeffery R and Padmanabhan, Sandosh and Palmen, Jutta and Patel, Sanjey R and Pepine, Carl J and Pettinger, Mary and Price, Thomas S and Rafelt, Suzanne and Ranchalis, Jane and Rasheed, Asif and Rosenthal, Elisabeth and Ruczinski, Ingo and Shah, Sonia and Shen, Haiqing and Silbernagel, Günther and Smith, Erin N and Spijkerman, Annemieke W.M and Stanton, Alice and Steffes, Michael W and Thorand, Barbara and Trip, Mieke and van der Harst, Pim and van der A, Daphne L and van Iperen, Erik P.A and van Setten, Jessica and van Vliet-Ostaptchouk, Jana V and Verweij, Niek and Wolffenbuttel, Bruce H.R and Young, Taylor and Zafarmand, M. Hadi and Zmuda, Joseph M and Boehnke, Michael and Altshuler, David and McCarthy, Mark and Kao, W.H. Linda and Pankow, James S and Cappola, Thomas P and ... and PROCARDIS and Diagram Consortium and ASCOT Investigators and Look AHEAD Res Grp and Look AHEAD Research Group and DIAGRAM consortium and Cardiovascular Research - Hypertension and Kardiovaskulär forskning - hypertoni and EpiHealth: Epidemiology for Health and Lund University and Lunds universitet and EXODIAB: Excellence in Diabetes Research in Sweden
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 410 - 425
To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom ∼50,000 SNP genotyping array (the... 
COMMON VARIANTS | POPULATION | RISK LOCI | INSULIN-RESISTANCE | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | EUROPEAN AMERICANS | AFRICAN-AMERICANS | SNP ARRAY | BLOOD-PRESSURE | GENOME-WIDE ASSOCIATION | Genetic Predisposition to Disease | Follow-Up Studies | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Genotype | Male | Genetic Loci | Case-Control Studies | Young Adult | Diabetes Mellitus, Type 2 - ethnology | Ethnic Groups | Adolescent | Aged, 80 and over | Adult | Female | Aged | Polymorphism, Single Nucleotide | Genome-Wide Association Study - methods | Reviews | Genotyping | Diabetes mellitus | Ethnic groups | Clinical trials | Population studies | Single-nucleotide polymorphism | Genetic factors | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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2. Full Text Model organisms facilitate rare disease diagnosis and therapeutic research
by Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Posey, Jennifer E and Westerfield, Monte and Postlethwait, John and Hieter, Philip and Boycott, Kym M and Campeau, Philippe M and Bellen, Hugo J and Adams, David R and Hanchard, Neil A and Papp, Jeanette C and Alejandro, Mercedes E and Handley, Lori H and Parker, Neil H and Allard, Patrick and Herzog, Matthew R and Pena, Loren D. M and Ashley, Euan A and Holm, Ingrid A and Phillips, John A and Azamian, Mahshid S and Howerton, Ellen M and Bacino, Carlos A and Jacob, Howard J and Postlethwait, John H and Balasubramanyam, Ashok and Jain, Mahim and Potocki, Lorraine and Barseghyan, Hayk and Jiang, Yong-Hui and Pusey, Barbara N and Beggs, Alan H and Johnston, Jean M and Ramoni, Rachel B and Jones, Angela L and Robertson, Amy K and Bernstein, Jonathan A and Koeller, David M and Rodan, Lance H and Bican, Anna and Kohane, Isaac S and Rosenfeld, Jill A and Bick, David P and Kohler, Jennefer N and Samson, Susan L and Birch, Camille L and Krasnewich, Donna M and Schoch, Kelly and Boone, Braden E and Krieg, Elizabeth L and Schroeder, Molly C and Bostwick, Bret L and Krier, Joel B and Scott, Daryl A and Briere, Lauren C and Kyle, Jennifer E and Sharma, Prashant and Brown, Donna M and Lalani, Seema R and Shashi, Vandana and Brush, Matthew and Lau, C. Christopher and Silverman, Edwin K and Burke, Elizabeth A and Lazar, Jozef and Sinsheimer, Janet S and Burrage, Lindsay C and Lee, Brendan H and Soldatos, Ariane G and Chen, Shan and Lee, Hane and Spillmann, Rebecca C and Clark, Gary D and Levy, Shawn E and Splinter, Kimberly and Cogan, Joy D and Lewis, Richard A and Stoler, Joan M and Cooper, Cynthia M and Lincoln, Sharyn A and Stong, Nicholas and Craigen, William J and Lipson, Allen and Strong, Kimberly A and Davids, Mariska and Loo, Sandra K and Sullivan, Jennifer A and Dayal, Jyoti G and Loscalzo, Joseph and Sweetser, David A and Dell'Angelica, Esteban C and Maas, Richard L and Tifft, Cynthia J and Dhar, Shweta U and Macnamara, Ellen F and Toro, Camilo and Dillon, Ani and MacRae, Calum A and ... and UDN and Members of the Undiagnosed Diseases Network (UDN)
Genetics, ISSN 0016-6731, 2017, Volume 207, Issue 1, pp. 9 - 27
Efforts to identify the genetic underpinnings of rare undiagnosed diseases increasingly involve the use of next-generation sequencing and comparative genomic... 
Human | Diagnostics | Drosophila | Whole-exome sequencing | Zebrafish | Genetic diseases | Functional genomics | genetic diseases | RECURRENT DE-NOVO | METABOLIC CRISES | GENETIC-CONTROL | HEALTH UNDIAGNOSED DISEASES | functional genomics | diagnostics | CELL-DIVISION CYCLE | GENETICS & HEREDITY | zebrafish | FUNCTIONAL ANNOTATION | human | whole-exome sequencing | WEB-BASED TOOL | TRUNCATING MUTATIONS | GENOME-WIDE ASSOCIATION | DROSOPHILA RESEARCH | Rare Diseases - genetics | Humans | Genetic Diseases, Inborn - genetics | Rare Diseases - diagnosis | Genetic Diseases, Inborn - therapy | Genetic Testing - methods | Zebrafish - genetics | Exome | Animals | Rare Diseases - therapy | Genetic Diseases, Inborn - diagnosis | Disease Models, Animal | Drosophila - genetics | Biomedical research | Yeast | Disease | Pathogenesis | Genomics | Genes | Research guides | Genomes | Organisms | Hybridization | Medical diagnosis | Cell cycle | Genetics | Physiology | Diagnosis | Medical research | Genetic disorders | Gene families | Organs | Genetic diversity | Diseases | Studies | Researchers | Insects | Collaboration | Diagnostic systems | Review
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3. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network and Medicinska fakulteten and Klinisk epidemiologi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene . The current... 
Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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4. Full Text Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals
by Guo, Yiran and Lanktree, Matthew B and Taylor, Kira C and Hakonarson, Hakon and Lange, Leslie A and Keating, Brendan J and Fairfax, Benjamin P and Elbers, Clara C and Barnard, John and Farrall, Martin and Padmanabhan, Sandosh and Baumert, Jens and Castillo, Berta A and Gaunt, Tom R and Gong, Yan and Rajagopalan, Ramakrishnan and Romaine, Simon P. R and Kumari, Meena and Rafelt, Suzanne and Smith, Erin N and Li, Yun R and Sivapalaratnam, Suthesh and van Iperen, Erik P. A and Speliotes, Elizabeth K and Toskala, Elina and Zhang, Li and Ochs-Balcom, Heather M and Bhangale, Tushar R and Chanupatla, Hareesh R and nos, Fotios and Gieger, Christian and Gupta, Jayanta and Johnson, Toby and Kleber, Marcus E and Makino, Seiko and Mangino, Massimo and Meng, Yan and Nelson, Christopher P and Pankow, James S and Pankratz, Nathan and Price, Tom S and Shaffer, Jonathan and Bezzina, Connie R and Chen, Wei and de Jong, Jonas S and Zafarmand, Mohammad H and Zwinderman, Aeilko H and Hovingh, Kees G and Kastelein, John J. P and Trip, Mieke D and IBC 50K SNP Array BMI Consortium and IBC 50K SNP array BMI Consortium and The IBC 50K SNP array BMI Consortium
Human molecular genetics, ISSN 0964-6906, 2013, Volume 22, Issue 1, pp. 184 - 201
Recent genetic association studies have made progress in uncovering components of the genetic architecture of the body mass index (BMI). We used the... 
MC4R | COMMON VARIANTS | EATING BEHAVIOR | POPULATION | OBESITY | POLYMORPHISMS | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | ADIPOSITY | MELANOCORTIN-4 RECEPTOR | GENOME-WIDE ASSOCIATION | Body Mass Index | Polymorphism, Single Nucleotide | Ethnic Groups - genetics | Humans | Cohort Studies | Association Studies
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5. Full Text Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
by Machol, Keren and Rousseau, Justine and Ehresmann, Sophie and Garcia, Thomas and Nguyen, Thi Tuyet Mai and Spillmann, Rebecca C and Sullivan, Jennifer A and Shashi, Vandana and Jiang, Yong-hui and Stong, Nicholas and Fiala, Elise and Willing, Marcia and Pfundt, Rolph and Kleefstra, Tjitske and Cho, Megan T and McLaughlin, Heather and Rosello Piera, Monica and Orellana, Carmen and Martínez, Francisco and Caro-Llopis, Alfonso and Monfort, Sandra and Roscioli, Tony and Nixon, Cheng Yee and Buckley, Michael F and Turner, Anne and Jones, Angela L and Jones, Wendy D and van Hasselt, Peter M and Hofstede, Floris C and van Gassen, Koen L.I and Brooks, Alice S and van Slegtenhorst, Marjon A and Lachlan, Katherine and Sebastian, Jessica and Madan-Khetarpal, Suneeta and Sonal, Desai and Sakkubai, Naidu and Thevenon, Julien and Faivre, Laurence and Maurel, Alice and Petrovski, Slavé and Krantz, Ian D and Tarpinian, Jennifer M and Rosenfeld, Jill A and Lee, Brendan H and Lee, Hane and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 164 - 178
SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role... 
neurodevelopmental disorder | transcriptome | genotype-phenotype correlation | Bafopathy | speech delay | developmental delay | dysmorphisms | intellectual disability | NEURAL DEVELOPMENT | REGULATOR | SWI/SNF COMPLEX | COFFIN-SIRIS SYNDROME | GENETICS & HEREDITY | MSWI/SNF COMPLEXES | GATED CALCIUM-CHANNELS | GENOTYPE-PHENOTYPE | MISSENSE MUTATIONS | NEURODEVELOPMENTAL DISORDER | GENE-TRANSCRIPTION | Child development deviations | Genetic aspects | Disease susceptibility | Research | Mental retardation | Risk factors | Developmental disabilities | Report
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6. Full Text Effect of a lifestyle intervention on change in cardiorespiratory fitness in adults with type 2 diabetes: results from the Look AHEAD Study
by Jakicic, J.M and Jaramillo, S.A and Balasubramanyam, A and Bancroft, B and Curtis, J.M and Mathews, A and Pereira, M and Regensteiner, J.G and Ribisl, P.M and Look AHEAD Study Grp and Look AHEAD Study Group
International Journal of Obesity, ISSN 0307-0565, 03/2009, Volume 33, Issue 3, pp. 305 - 316
Objective: To examine the effect of an intensive lifestyle weight loss intervention (ILI) compared to diabetes support and education (DSE) on changes in... 
Exercise | Diabetes | Physical activity | Fitness | UNITED-STATES | CLINICAL-TRIAL | WEIGHT-LOSS | exercise | physical activity | ALL-CAUSE MORTALITY | GLUCOSE-HOMEOSTASIS | NUTRITION & DIETETICS | fitness | ENDOCRINOLOGY & METABOLISM | CARDIOVASCULAR-DISEASE | BODY-MASS INDEX | PHYSICAL-ACTIVITY | OBESE INDIVIDUALS | diabetes | Multivariate Analysis | Cardiovascular Diseases - physiopathology | Life Style | Risk Reduction Behavior | Obesity - complications | Cardiovascular Diseases - prevention & control | Humans | Middle Aged | Male | Obesity - physiopathology | Diabetic Angiopathies - physiopathology | Exercise Test | Diabetes Mellitus, Type 2 - physiopathology | Diabetes Mellitus, Type 2 - therapy | Obesity - therapy | Weight Loss - physiology | Female | Physical Fitness | Surveys and Questionnaires | Exercise - physiology | Diabetic Angiopathies - prevention & control | Type 2 diabetes | Overweight persons | Control | Medical examination | Physiological aspects | Research | Health aspects | Risk factors | Life style | obesity
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