المؤلفون: Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Gregory James, Lena Westbom, Ruth Day, Edmund Ladusans, Adam Jackson, Iain Bruce, Robert Walker, Sangeet Sidhu, Catrina Dyer, Jane Ashworth, Daniel Hindley, Gemma Arca Diaz, Myfanwy Rawson, Peter Turnpenny

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-21 (2019)

مصطلحات موضوعية: Fetal valproate syndrome, Expert consensus, Management, Guideline, Teratogen, Antiepileptic drug, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1064-y; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a25943dcb31c444299d43a603dc0f4ff

المؤلفون: Delia Muir, Lidewij Eva Vat, Malori Keller, Tim Bell, Clara R. Jørgensen, Nanna B. Eskildsen, Anna T. Johnsen, Raksha Pandya-Wood, Steven Blackburn, Ruth Day, Carol Ingram, Julie Hapeshi, Samaira Khan, Wendy Baird, Sue H. Pavitt, Richard Boards, Janet Briggs, Ellen Loughhead, Mariya Patel, Rameesa Khalil, David Cooper, Peter Day, Jenny Boards, Jianhua Wu, Timothy Zoltie, Sophy Barber, Wendy Thompson, Kate Kenny, Jenny Owen, Martin Ramsdale, Kara Grey-Borrows, Nigel Townsend, Judith Johnston, Katie Maddison, Harry Duff-Walker, Katie Mahon, Lily Craig, Rebecca Collins, Alice O’Grady, Sarah Wadd, Adrian Kelly, Maureen Dutton, Michelle McCann, Rebecca Jones, Elspeth Mathie, Helena Wythe, Diane Munday, Paul Millac, Graham Rhodes, Nick Roberts, Jean Simpson, Nat Barden, Penny Vicary, Amander Wellings, Fiona Poland, Julia Jones, Jahanara Miah, Howard Bamforth, Anna Charalambous, Piers Dawes, Steven Edwards, Iracema Leroi, Valeria Manera, Suzanne Parsons, Ruth Sayers, Vanessa Pinfold, Paul Dawson, Bliss Gibbons, John Gibson, Charley Hobson-Merrett, Catherine McCabe, Tim Rawcliffe, Lucy Frith, Bernard Gudgin, Adele Horobin, Colleen Ewart, Fred Higton, Stevie Vanhegan, Jane Stewart, Andy Wragg, Paula Wray, Kirsty Widdowson, Lisa Jane Brighton, Sophie Pask, Hamid Benalia, Sylvia Bailey, Marion Sumerfield, Simon Etkind, Fliss E. M. Murtagh, Jonathan Koffman, Catherine J. Evans, Susan Hrisos, Julie Marshall, Lyndsay Yarde, Bren Riley, Paul Whitlock, Jacqui Jobson, Safia Ahmed, Judith Rankin, Lydia Michie, Jason Scott, Caroline R. Barker, Megan Barlow-Pay, Aisha Kekere-Ekun, Aniqa Mazumder, Aniqa Nishat, Rebecca Petley, Louca-Mai Brady, Lorna Templeton, Erin Walker, Darren Moore, Liz Shaw, Michael Nunns, Jo Thompson Coon, Paula Blomquist, Sarah Cochrane, Natalie Edelman, Josina Calliste, Jackie Cassell, Laura B. Mader, Sabine Kläger, Ian B. Wilkinson, Thomas F. Hiemstra, Mel Hughes, Angela Warren, Peter Atkins, Hazel Eaton, Julia Keenan, Carol Rhodes, Magdalena Skrybrant, Lucy Chatwin, Mary-Anne Darby, Andrew Entwistle, Diana Hull, Naimh Quann, Gary Hickey, Krysia Dziedzic, Sabrina A. Eltringham, Jim Gordon, Sue Franklin, Joni Jackson, Nick Leggett, Philippa Davies, Manjula Nugawela, Lauren Scott, Verity Leach, Alison Richards, Anthony Blacker, Paul Abrams, Jitin Sharma, Jenny Donovan, Penny Whiting, Simon R. Stones, Catherine Wright, Kate Boddy, Jenny Irvine, Jim Harris, Neil Joseph, Michele Kok, Andy Gibson, David Evans, Sally Grier, Alasdair MacGowan, Rachel Matthews, Constantina Papoulias, Cherelle Augustine, Maurice Hoffman, Mark Doughty, Heidi Surridge, Doreen Tembo, Amanda Roberts, Eleni Chambers, Daniel Beever, Martin Wildman, Rosemary L. Davies, Sophie Staniszewska, Richard Stephens, Sara Schroter, Amy Price, Tessa Richards, Andrew Demaine, Rebecca Harmston, Jim Elliot, Ella Flemyng, Lise Sproson, Liz Pryde, Heath Reed, Gill Squire, Andy Stanton, Joe Langley, Moya Briggs, Philip Brindle, Rod Sanders, Christopher McDermott, Coyle David, Heron Nicola, Davies Simon, Wilkie Martin, Tina Coldham, Claire Ballinger, Lynn Kerridge, Mark Mullee, Caroline Eyles, Tracey Johns, Jon Paylor, Katie Turner, Lisa Whiting, Sheila Roberts, Julia Petty, Gary Meager, Anna Grinbergs-Saull, Natasha Morgan, Kati Turner, Flavia Collins, Sarah Gibson, Siobhan Passmore, Liz Evans, Stuart A. Green, Jenny Trite, Richard Thomson, Dave Green, Helen Atkinson, Alex Mitchell, Lynne Corner, Anne Mc Kenzie AM, Rebecca Nguyen, Belinda Frank, Ngaire McNeil, Hayley Harrison

المصدر: Research Involvement and Engagement, Vol 3, Iss S1, Pp 1-17 (2017)

مصطلحات موضوعية: Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40900-017-0075-x; https://doaj.org/toc/2056-7529

URL الوصول: https://doaj.org/article/f0051a1a292143f1a6fb17f891a1a6a3

المؤلفون: Lea, Sydney, Bean, Ruth Day

المصدر: The Hudson Review, 2006 Jan 01. 58(4), 599-600.

URL الوصول: https://www.jstor.org/stable/20464489

المؤلفون: Janet Williams, Amanda G. Wood, Adam Jackson, Robert W.M. Walker, Neelo Aslam, John Dean, Myfanwy Rawson, Latha Hackett, Iain A. Bruce, Peter D. Turnpenny, Rebecca Bromley, Ruth Day, Verna Cuthbert, Lena Westbom, Hubert Journel, Jill Clayton-Smith, Gregory James, Sylvie Odent, Edmund J. Ladusans, Jane Ashworth, Gemma Arca Diaz, Sangeet Sidhu, Heli Malm, Daniel Hindley, Catrina Dyer

المساهمون: Manchester University NHS Foundation Trust (MFT), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), University of Helsinki, CHAFEA [HP-ERN-SGA-2017 - 769045], HUS Emergency Medicine and Services, Department of Diagnostics and Therapeutics, Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Helsingin yliopisto = Helsingfors universitet = University of Helsinki

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-21 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2019, 14 (1), pp.180. ⟨10.1186/s13023-019-1064-y⟩
Clayton-Smith, J, Bromley, R, Dean, J, Journel, H, Odent, S, Wood, A, Williams, J, Cuthbert, V, Hackett, L, Aslam, N, Malm, H, James, G, Westbom, L, Day, R, Ladusans, E, Jackson, A, Bruce, I, Walker, R, Sidhu, S, Dyer, C, Ashworth, J, Hindley, D, Diaz, G A, Rawson, M, Turnpenny, P & Jackson, A 2019, ' Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, pp. 180 . https://doi.org/10.1186/s13023-019-1064-y
Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.180. ⟨10.1186/s13023-019-1064-y⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV]Life Sciences [q-bio], Expert consensus, lcsh:Medicine, CHILDREN, FOLIC-ACID, 030105 genetics & heredity, Guideline, 0302 clinical medicine, Fetal Valproate Spectrum Disorder, Pregnancy, Intellectual disability, Pharmacology (medical), Spectrum disorder, Prospective Studies, Position Statement, Genetics (clinical), EPILEPSY, ComputingMilieux_MISCELLANEOUS, Neuropsychology, 1184 Genetics, developmental biology, physiology, Cognition, General Medicine, 3. Good health, Management, Teratogens, PREGNANCY, Anticonvulsants, Female, Antiepileptic drug, COGNITIVE OUTCOMES, medicine.medical_specialty, Consensus, ANTIEPILEPTIC DRUG EXPOSURE, Fetal valproate syndrome, SPINA-BIFIDA, 03 medical and health sciences, Intellectual Disability, medicine, Humans, MAJOR MALFORMATIONS, Psychiatry, business.industry, Valproic Acid, Uterus, lcsh:R, SODIUM VALPROATE, Evidence-based medicine, medicine.disease, Teratogen, Teratology, Pregnancy Complications, IN-UTERO EXPOSURE, business, 030217 neurology & neurosurgery, Medical literature

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8311a1ee18d5d9ee7459b282816b050
http://link.springer.com/article/10.1186/s13023-019-1064-y

المؤلفون: Ruth Day

نوع المادة: eBook.

تصنيفات: BIOGRAPHY & AUTOBIOGRAPHY / Women, HISTORY / Asia / China

المؤلفون: Sanjeev S. Bhaskar, Shehla Mohammed, Sahar Mansour, Janine Smith, Tim Thomas, Jill Clayton-Smith, Beverley Anderson, Dian Donnai, Leslie G. Biesecker, Alan Fryer, Ruth Day, Philip Smith, Shane McKee, Bronwyn Kerr, Kate Chandler, Małgorzata Krajewska-Walasek, Sally Ann Lynch, Anne K. Voss, May Tassabehji, Graeme C.M. Black, James O'Sullivan, Sarah B. Daly, Elizabeth Sweeney

المصدر: The American Journal of Human Genetics. 89(5):675-681

مصطلحات موضوعية: Adult, Heart Defects, Congenital, Joint Instability, Male, Mice, Transgenic, Biology, Blepharophimosis, Polymorphism, Single Nucleotide, symbols.namesake, Exon, Mice, INDEL Mutation, Intellectual Disability, Report, medicine, Congenital Hypothyroidism, Genetics, Animals, Humans, Abnormalities, Multiple, Exome, Genetics(clinical), Child, Gene, Genetics (clinical), Exome sequencing, Histone Acetyltransferases, Sanger sequencing, Regulation of gene expression, Chromosomes, Human, Pair 10, Facies, Gene Expression Regulation, Developmental, medicine.disease, Microarray Analysis, Chromatin, Codon, Nonsense, symbols, Genitopatellar syndrome, Female, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71e1fe44f97ec895a85407528ed807cc

المؤلفون: Mary E. Hovinga, Emily Ruth Day, Elizabeth G. Marshall, Daniel Lefkowitz

المصدر: Journal of Agromedicine. 15:357-362

مصطلحات موضوعية: Fisheries, Poison control, Suicide prevention, Occupational safety and health, Commercial fishing, Risk Factors, Environmental health, Injury prevention, Accidents, Occupational, Humans, Medicine, Occupational Health, Occupational fatality, Denominator data, New Jersey, business.industry, Incidence, Incidence (epidemiology), Public Health, Environmental and Occupational Health, medicine.disease, Military Personnel, Wounds and Injuries, Accidental Falls, Crush Syndrome, Medical emergency, Burns, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edb923b5c7bbee6dbde8917c0653488c
https://doi.org/10.1080/1059924x.2010.510104

المؤلفون: Cynthia J. Curry, Margarita Raygada, Raoul C.M. Hennekam, Virginia Kimonis, John M. Graham, Alexa Kidd, David J. Amor, Helen Murphy, Annmarie Sommer, Salim Aftimos, Maureen Bocian, Amy Shealy, Michael T. Gabbett, Graeme C.M. Black, Susan Tomkins, Lakshmi Mehta, Bernhard Zabel, Michael Field, Joyce T. Turner, Margot I. Van Allen, Mark J. Stephan, Wendy E. Smith, Sally Ann Lynch, David Tilstra, Janice Zunich, Anne Chun Hui Tsai, Alan F. Rope, Pradeep Vasudevan, Kenneth N. Rosenbaum, Robert J. Hopkin, Julie C. Sapp, Moran Gal, Kyrieckos A. Aleck, Hülya Kayserili, Jennifer J. Johnston, Angela E. Lin, Julie McGaughran, Leslie G. Biesecker, G. Bradley Schaefer, Ruth Day, Joann Bodurtha, Ikuma Fujiwara, Heather J. Stalker, Dian Donnai, Melissa K. Maisenbacher, Peter Hedera, Maria Soller, Sahar Mansour, Nathaniel H. Robin, Joseph H. Hersh, Pamela Trapane, Gerald F. Cox, Bernhard Steiner

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics

المصدر: Human mutation, 31(10), 1142-1154. Wiley-Liss Inc.

مصطلحات موضوعية: Proband, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Genotype, Kruppel-Like Transcription Factors, Nerve Tissue Proteins, Biology, medicine.disease_cause, Craniofacial Abnormalities, Zinc Finger Protein Gli3, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Greig cephalopolysyndactyly syndrome, Mutation, Polydactyly, Pallister-Hall Syndrome, fungi, medicine.disease, Acrocallosal syndrome, Phenotype, Pallister–Hall syndrome, Medical genetics, Syndactyly, Mouth Abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9fbdce47ec67c7da912bab79883e550
https://doi.org/10.1002/humu.21328

المؤلفون: Mohd Hafeez Faridi, Ruth Day, Vineet Gupta, Darren Stoub, Constantinos J. Barth, Stephan C. Schürer, Dony Maiguel

المصدر: Bioorganic & Medicinal Chemistry Letters. 19:6902-6906

مصطلحات موضوعية: Protein Conformation, Clinical Biochemistry, Allosteric regulation, Integrin, Pharmaceutical Science, CD18, Biochemistry, Article, Collagen receptor, Structure-Activity Relationship, Drug Discovery, Cell Adhesion, Humans, Furans, Molecular Biology, CD11b Antigen, biology, Chemistry, Cell adhesion molecule, Anti-Inflammatory Agents, Non-Steroidal, Organic Chemistry, Small molecule, Cell biology, Integrin alpha M, CD18 Antigens, biology.protein, Molecular Medicine, Thiazolidinediones, Integrin, beta 6, Caco-2 Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9564da676f6a5398ee6332831ee671ca
https://doi.org/10.1016/j.bmcl.2009.10.077

المؤلفون: Ruth Day, Stuart P. D. Gill, Carol Haigh, Jeremy Nightingale, Fiona Duncan, Olga O'Neill, David Counsell

المصدر: Pain medicine (Malden, Mass.). 15(1)

مصطلحات موضوعية: Male, National Health Programs, Care provision, Surveys and Questionnaires, Medicine, Longitudinal Studies, Registries, Practice Patterns, Physicians', Child, Depression (differential diagnoses), Aged, 80 and over, Analgesics, Pain, Postoperative, Data Collection, Workload, General Medicine, Middle Aged, Acute Pain, Treatment Outcome, Child, Preschool, Female, medicine.symptom, Hypotension, Anesthesia Department, Hospital, Adult, medicine.medical_specialty, Adolescent, Nausea, Analgesic, Staffing, Young Adult, Humans, Pain Management, Adverse effect, Aged, Quality of Health Care, business.industry, Infant, Respiration Disorders, Drug Utilization, United Kingdom, Anesthesiology and Pain Medicine, Cross-Sectional Studies, Health Care Surveys, Orthopedic surgery, Postoperative Nausea and Vomiting, Physical therapy, Pain Clinics, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24769642ba00026daf8274a12dd7f601
https://pubmed.ncbi.nlm.nih.gov/24433467