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1. Full Text Anomalous midline location of the descending aorta: A cause of compression of the carina and left mainstem bronchus in infants
by Donnelly, L.F and Bisset III, G.S and McDermott, B
American journal of roentgenology (1976), ISSN 0361-803X, 1995, Volume 164, Issue 3, pp. 705 - 707
Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Cardiovascular system | Radiodiagnosis. Nmr imagery. Nmr spectrometry | Biological and medical sciences | Investigative techniques, diagnostic techniques (general aspects) | Medical sciences | Aorta, Thoracic - abnormalities | Magnetic Resonance Imaging | Bronchial Diseases - etiology | Tracheal Stenosis - diagnosis | Constriction, Pathologic | Humans | Female | Infant | Male | Bronchial Diseases - diagnosis | Tracheal Stenosis - etiology | Index Medicus | Abridged Index Medicus
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2. Full Text Coordination of European policy inside the British government
by Donnelly, Martin
Public administration (London), ISSN 0033-3298, 03/2019, Volume 97, Issue 1, pp. 226 - 230
Social Sciences | Public Administration | Government & Law | Political Science | Civil service | Coordination | Public policy | Decision making | Trust | EU membership
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3. Full Text Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
by Blok, Lot Snijders and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 1 - 4
DNA helicase | Neurodevelopmental disorders | Mutation
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4. Full Text Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
by Snijders Blok, Lot and Rousseau, Justine and Twist, Joanna and Ehresmann, Sophie and Takaku, Motoki and Venselaar, Hanka and Rodan, Lance H and Nowak, Catherine B and Douglas, Jessica and Swoboda, Kathryn J and Steeves, Marcie A and Sahai, Inderneel and Stumpel, Connie T R M and Stegmann, Alexander P A and Wheeler, Patricia and Willing, Marcia and Fiala, Elise and Kochhar, Aaina and Gibson, William T and Cohen, Ana S A and Agbahovbe, Ruky and Innes, A Micheil and Au, P Y Billie and Rankin, Julia and Anderson, Ilse J and Skinner, Steven A and Louie, Raymond J and Warren, Hannah E and Afenjar, Alexandra and Keren, Boris and Nava, Caroline and Buratti, Julien and Isapof, Arnaud and Rodriguez, Diana and Lewandowski, Raymond and Propst, Jennifer and van Essen, Ton and Choi, Murim and Lee, Sangmoon and Chae, Jong H and Price, Susan and Schnur, Rhonda E and Douglas, Ganka and Wentzensen, Ingrid M and Zweier, Christiane and Reis, André and Bialer, Martin G and Moore, Christine and Koopmans, Marije and Brilstra, Eva H and Monroe, Glen R and van Gassen, Koen L I and van Binsbergen, Ellen and Newbury-Ecob, Ruth and Bownass, Lucy and Bader, Ingrid and Mayr, Johannes A and Wortmann, Saskia B and Jakielski, Kathy J and Strand, Edythe A and Kloth, Katja and Bierhals, Tatjana and Roberts, John D and Petrovich, Robert M and Machida, Shinichi and Kurumizaka, Hitoshi and Lelieveld, Stefan and Pfundt, Rolph and Jansen, Sandra and Deriziotis, Pelagia and Faivre, Laurence and Thevenon, Julien and Assoum, Mirna and Shriberg, Lawrence and Kleefstra, Tjitske and Brunner, Han G and Wade, Paul A and Fisher, Simon E and Campeau, Philippe M and DDD study and The DDD study
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 2079
DNA helicase | Neurodevelopmental disorders | Mutation
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5. Full Text Prevalence and architecture of de novo mutations in developmental disorders
by McRae, Jeremy F and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Barrett, Daniel M and Jones, Wendy D and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Ahmed, Munaza and Anjum, Uruj and Barnicoat, Angela and Batstone, Paul and Bevan, A. Paul and Blyth, Moira and Canham, Natalie and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Coates, Andrea and Collinson, Morag N and Cooper, Nicola and Cox, Helen and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and De Vries, Dylan and Deshpande, Charu and Devlin, Gemma and Dobbie, Angus and Donnai, Dian and Ellard, Sian and Elmslie, Frances and Fry, Andrew and Gaunt, Lorraine and Gray, Emma and Harrison, Rachel and Harrison, Victoria and Henderson, Alex and Hewitt, Sarah and Holden, Simon and Holder, Susan and Hollingsworth, Georgina and Homfray, Tessa and Hurst, Jane and Jarvis, Joanna and Kaemba, Beckie and Kazembe, Sandra and Kelsell, Rosemary and Kerr, Bronwyn and Kinning, Esther and Kivuva, Emma and Kumar, Dhavendra and Ajith Kumar, V.K and Lam, Wayne and Langman, Caroline and Marks, Karen and McConnell, Vivienne and McKee, Shane and McMullan, Dominic J and Mehta, Sarju and Middleton, Anna and Montgomery, Tara and Naik, Swati and Nevitt, Louise and Newbury-Ecob, Ruth and Norman, Andrew and O'Shea, Rosie and Park, Soo-Mi and Patel, Chirag and Payne, Stewart and Phipps, Julie and Pilz, Daniela T and Pottinger, Caroline and Pratt, Norman and Prescott, Katrina and Price, Sue and Rahbari, Raheleh and Raymond, Lucy and Roberts, Jonathan and Roberts, Paul and Selby, Ann and Seller, Anneke and Sheridan, Eamonn and Smith, Kath and Smithson, Sarah and Splitt, Miranda and Squires, Miranda and Stewart, Fiona and Suri, Mohnish and Sutton, Vivienne and Swaminathan, Ganesh Jawahar and Turnpenny, Peter and Tysoe, Carolyn and Vogt, Julie and Wellesley, Diana and Wright, Michael and Nellåker, Chris and FitzPatrick, David R and Barrett, Jeffrey C and Deciphering Developmental Disorders Study
Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
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6. Full Text Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
by Faundes, Víctor and Davies, Sally J and Goldman, Amy and Lehman, Anna and McKee, Shane and Morton, Jenny and Rankin, Julia and Temple, I. Karen and Adam, Shelin and Elliott, Alison M and van Karnebeek, Clara and McRae, Jeremy F and Fitzgerald, Tomas W and Aitken, Stuart and Alvi, Mohsan and Ambridge, Kirsty and Jones, Philip and Ahmed, Munaza and Balasubramanian, Meena and Barnicoat, Angela and Bitner-Glindzicz, Maria and Bourdon, Louise and Bradley, Lisa and Burn, John and Clasper, Susan and Colgiu, Irina and Collins, Amanda and Connell, Fiona and Crow, Yanick and Dabir, Tabib and Davidson, Rosemarie and de Vries, Dylan and Deshpande, Charu and Dixit, Abhijit and Dobbie, Angus and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Flinter, Frances and Foulds, Nicola and Gardiner, Carol and Ghali, Neeti and Gibbons, Richard and Gill, Harinder and Greene, Philip and Gribble, Susan and Holder, Muriel and Hollingsworth, Georgina and Ingram, Stuart and Jenkins, Lucy and Joss, Shelagh and Kerr, Bronwyn and Kini, Usha and Kraus, Alison and Lachlan, Katherine and Lynch, Sally A and Marks, Karen and McConnell, Vivienne and McEntagart, Meriel and McGowan, Ruth and McKay, Kirsten and Middleton, Anna and Mohammed, Shehla and O’Shea, Rosie and Ogilvie, Caroline and Ong, Kai-Ren and Patel, Chirag and Paterson, Joan and Payne, Stewart and Prescott, Katrina and Procter, Annie and Purnell, Hellen and Randall, Josh and Rankin, Julia and Raymond, Lucy and Rice, Debbie and Robert, Leema and Samant, Shalaka and Selby, Ann and Sequeira, Cheryl and Shears, Debbie and Smith, Audrey and Smith, Kath and Splitt, Miranda and Squires, Miranda and Tomkins, Susan and Treacy, Becky and Tysoe, Carolyn and Vasudevan, Pradeep and Vijayarangakannan, Parthiban and Vogt, Julie and Wakeling, Emma and Whiteford, Margo and Wilcox, Sarah and Wilkinson, Emily and Williams, Denise and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study and The Deciphering Developmental Disorders (DDD) Study and Clin Assessment Utility Sequencin and Deciphering Dev Disorders DD and Deciphering Developmental Disorders (DDD) Study
American journal of human genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 175 - 187
KDM5B | histone lysine methyltransferase | KMT2C | histone lysine demethylase | KMT2B | Developmental disorders | chromatin remodeling | KMT5B | ASH1L | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Histone-Lysine N-Methyltransferase - genetics | Developmental Disabilities - enzymology | Humans | Adolescent | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Mutation | Child | Histone Demethylases - genetics | Haploinsufficiency | Methyltransferases | Lysine | Analysis | Genomics | Cytogenetics | Methylation | Pediatric neurology | Index Medicus | Report
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7. Full Text Hearing Rehabilitation with Active Middle Ear Implants
by Donnelly, Neil P and Pennings, Ronald J.E
04/2018, Advances in Oto-Rhino-Laryngology, ISBN 3318063142, Volume 81, 14
Chapter | Index Medicus
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8. Full Text Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
by Pais, Lynn S and Abou Jamra, Rami and Accogli, Andrea and Amburgey, Kimberly and Basinger, Alice A and Ceulemans, Sophia and Charles, Perrine and McRae, Jeremy F and Fitzgerald, Tomas W and Rajan, Diana and Ambridge, Kirsty and Jones, Philip and Mason, Laura E and Ahmed, Munaza and Anjum, Uruj and Armstrong, Ruth and Barnicoat, Angela and Bennett, Chris and Blair, Edward and Blyth, Moira and Bourdon, Louise and Brady, Angela and Burn, John and Canham, Natalie and Cilliers, Deirdre and Clayton-Smith, Jill and Coates, Andrea and Cooper, Nicola and Dabir, Tabib and Davies, Sally and Dean, John and Devlin, Gemma and Donnai, Dian and Donnelly, Carina and Evans, Karenza and Fendick, Tina and Goodship, Judith and Green, Andrew and Harrison, Lucy and Holden, Simon and Jarvis, Joanna and Johnson, Diana and Jones, Elizabeth and Kumar, V. K. Ajith and Lachlan, Katherine and Langman, Caroline and Maye, Una and McWilliam, Catherine and Metcalfe, Kay and Norman, Andrew and Ogilvie, Caroline and Park, Soo-Mi and Phipps, Julie and Prescott, Katrina and Procter, Annie and Purnell, Hellen and Ross, Alison and Sampson, Julian and Shannon, Nora and Skitt, Zara and Stewart, Fiona and Stewart, Helen and Swaminathan, Ganesh Jawahar and Taylor, Cat and Tein, Mark and Treacy, Becky and Vandersteen, Anthony and Wallwark, Sarah and Waters, Jonathon and Weber, Astrid and Whiteford, Margo and Widaa, Sara and Wilcox, Sarah and Wilkinson, Emily and Parker, Michael and Barrett, Jeffrey C and Demurger, Florence and Eiset, Saga Elise and Escobar, Luis F and Ferrarini, Alessandra and Hashim, Mona and Kok, Fernando and Masruha, Marcelo R and McWalter, Kirsty and Melchinger, Esther U and Mercimek-Andrews, Saadet and Person, Richard and Ramelli, Gian Paolo and Ramos, Luiza L.P and Rauch, Anita and Sanchez-Valle, Amarilis and Sattar, Shifteh and Saunders, Carol and Steindl, Katharina and Syrbe, Steffen and Vogel, Ida and Wentzensen, Ingrid M and Widjaja, Elysa and Zak, Jaroslav and Banka, Siddharth and Deciphering Developmental Disorders (DDD) Study and Deciphering Dev Disorders DDD
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Infant | Male | DNA-Binding Proteins - genetics | Epilepsy - etiology | Neurodevelopmental Disorders - pathology | Haploinsufficiency | Genetic Variation | Young Adult | Phenotype | Pedigree | Adolescent | Adult | Female | Heterozygote | Child | Epilepsy - pathology | Neurodevelopmental Disorders - etiology | Genetic variation | Epilepsy | Nervous system | Genetic aspects | Degeneration | Research | Risk factors | Index Medicus | Life Sciences | Genetics | Human genetics | Report | Medicin och hälsovetenskap
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9. Full Text Use of early corticosteroid therapy on ICU admission in patients affected by severe pandemic (H1N1)v influenza A infection
by Martin-Loeches, I and Martin-Loeches, I and Lisboa, T and Lisboa, T and Rhodes, A and Rhodes, A and Moreno, R P and Moreno, R P and Silva, E and Silva, E and Sprung, C and Sprung, C and Chiche, J D and Chiche, J D and Barahona, D and Barahona, D and Villabon, M and Villabon, M and Balasini, C and Balasini, C and Pearse, R M and Pearse, R M and Matos, R and Matos, R and Rello, J and Rello, J and ESICM H1N1 Registry Contributors and The ESICM H1N1 Registry Contributors
Intensive care medicine, ISSN 0342-4642, 2/2011, Volume 37, Issue 2, pp. 272 - 283
Pediatrics | Pain Medicine | Pneumology/Respiratory System | Emergency Medicine | Medicine & Public Health | Community acquired pneumonia | Intensive / Critical Care Medicine | Pandemic (H1N1)v influenza A infection | Corticosteroid therapy | Anesthesiology | ARDS | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | Intensive care medicine | Emergency and intensive care: infection, septic shock | Medical sciences | Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy | Severity of Illness Index | Intensive Care Units | Pandemics | Prospective Studies | Pneumonia - epidemiology | Humans | Middle Aged | Europe - epidemiology | Male | Adrenal Cortex Hormones - therapeutic use | Influenza A Virus, H1N1 Subtype - drug effects | Adrenal Cortex Hormones - adverse effects | Likelihood Functions | Registries - statistics & numerical data | Survival Analysis | Adult | Female | Influenza, Human - drug therapy | Adrenal Cortex Hormones - administration & dosage | Cross Infection - epidemiology | Dosage and administration | Corticosteroids | Research | Diagnosis | Drug therapy | Swine influenza | Index Medicus | Original
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