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1Academic Journal
المؤلفون: Martin B Delatycki, Chris Jacobs, Bettina Meiser, Ian G Campbell, Lesley Andrews, Paul A James, Yi-An Ko, Alison Trainer, AGNES BANKIER, Kristine Barlow-Stewart, Jane Tiller, Nicole E Cousens, Simone Rowley, Sakshi Mahale, Rajneesh Kaur, Leslie Burnett, Suzanne Neil
المصدر: BMJ Open, Vol 11, Iss 6 (2021)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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2
المؤلفون: Jane M Tiller, Nicole E Cousens, Rajneesh Kaur, Simone Rowley, Yi-An Ko, Sakshi Mahale, Agnes Bankier, Bettina Meiser, Kristine Barlow-Stewart, Leslie Burnett, Chris Jacobs, Paul James, Alison Trainer, Suzanne Neil, Ian G Campbell, Lesley Andrews, Martin Delatycki
المصدر: Journal of Medical Genetics. 60:265-273
مصطلحات موضوعية: Genetics, Genetics (clinical)
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3
المؤلفون: Nicole E, Cousens, Jane, Tiller, Bettina, Meiser, Kristine, Barlow-Stewart, Simone, Rowley, Yi-An, Ko, Sakshi, Mahale, Ian G, Campbell, Rajneesh, Kaur, Agnes, Bankier, Leslie, Burnett, Chris, Jacobs, Paul A, James, Alison, Trainer, Suzanne, Neil, Martin B, Delatycki, Lesley, Andrews
المصدر: BMJ Open
مصطلحات موضوعية: BRCA2 Protein, Male, Ovarian Neoplasms, protocols & guidelines, BRCA1 Protein, public health, Australia, Prostatic Neoplasms, Breast Neoplasms, Genetics and Genomics, Jews, Mutation, Humans, Genetic Predisposition to Disease, genetics, Genetic Testing
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4Book
المؤلفون: Richard Cotton, Myles Axton, Agnes Bankier, Bernard Brais, Lawrence Cavedon, Desirée du Sart, Peter George, David Goldgar, Terence Harrison, Marienne Hibbert, John Hopper, Finlay Macrae, Christine M. O’Keefe, David Ravine, Ravi Savarirayan, Les Sheffield, Tim Smith, Nicola Stokes, Vijaya Sundararajan, David Thorburn, Ingrid Winship
المصدر: Nature Precedings
مصطلحات موضوعية: Genetics & Genomics, Bioinformatics
Relation: http://precedings.nature.com/documents/1784/version/2; oai:nature.com:10.1038/npre.2008.1784.2; http://dx.doi.org/10.1038/npre.2008.1784.2
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5
المؤلفون: Jane Halliday, Agnes Bankier, Martin B. Delatycki, Stephanie Gjorgioski, Merilyn Riley, David J. Amor
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(11)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Service provision, Single gene, Disease, Length of Stay, Genetic Condition, Hospitals, Pediatric, Hospitalization, Genetic etiology, Pediatric hospital, Hospital admission, Prevalence, Medicine, Humans, business, Child, Genetics (clinical)
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6
المؤلفون: Michael Fietz, Agnes Bankier, Michael Field, Harry Aizenberg, Leslie Burnett, Kristine Barlow-Stewart, Anne Proos, Ronald Fleischer, Raelia M Lew, Martin B. Delatycki, Yemima Berman
المصدر: Journal of Paediatrics and Child Health. 51:271-279
مصطلحات موضوعية: National health, endocrine system, education.field_of_study, Pediatrics, medicine.medical_specialty, business.industry, Tay-Sachs disease, Population, Disease, Primary care, medicine.disease, Family medicine, Pediatrics, Perinatology and Child Health, Economic evaluation, medicine, Ashkenazi Jewish, Population screening, education, business
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7
المؤلفون: Mandy Gael Katz, Lara Fitzgerald, Julian Savulescu, David S. Cram, Agnes Bankier
مصطلحات موضوعية: Adult, Parents, medicine.medical_specialty, Genetic counseling, medicine.medical_treatment, Genetic Counseling, Fertilization in Vitro, Reproductive technology, Preimplantation genetic diagnosis, Pregnancy, Surveys and Questionnaires, Eugenics, Humans, Medicine, Genetic Testing, Sex Preselection, Sex selection, Preimplantation Diagnosis, Genetics (clinical), Genetic testing, Gynecology, In vitro fertilisation, medicine.diagnostic_test, business.industry, Obstetrics, Genetic Diseases, Inborn, Obstetrics and Gynecology, respiratory system, medicine.disease, Female, lipids (amino acids, peptides, and proteins), business, Attitude to Health
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8Academic Journal
المؤلفون: Liisa M Pelttari, Sofia Khan, Mikko Vuorela, Johanna I Kiiski, Sara Vilske, Viivi Nevanlinna, Salla Ranta, Johanna Schleutker, Robert Winqvist, Anne Kallioniemi, Thilo Dörk, Natalia V Bogdanova, Jonine Figueroa, Paul DP Pharoah, Marjanka K Schmidt, Alison M Dunning, Montserrat García-Closas, Manjeet K Bolla, Joe Dennis, Kyriaki Michailidou, Qin Wang, John L Hopper, Melissa C Southey, Efraim H Rosenberg, Peter A Fasching, Matthias W Beckmann, Julian Peto, Isabel Dos-Santos-silva, Elinor J Sawyer, Ian Tomlinson, Barbara Burwinkel, Harald Surowy, Pascal Guénel, Thérèse Truong, Stig E Bojesen, Børge G Nordestgaard, Javier Benitez, Anna González-Neira, Susan L Neuhausen, Hoda Anton-Culver, Hermann Brenner, Volker Arndt, Alfons Meindl, Rita K Schmutzler, Hiltrud Brauch, Thomas Brüning, Annika Lindblom, Sara Margolin, Arto Mannermaa, Jaana M Hartikainen, Georgia Chenevix-Trench, Laurien Van Dyck, Hilde Janssen, Jenny Chang-Claude, Anja Rudolph, Paolo Radice, Paolo Peterlongo, Emily Hallberg, Janet E Olson, Graham G Giles, Roger L Milne, Christopher A Haiman, Fredrick Schumacher, Jacques Simard, Martine Dumont, Vessela Kristensen, Anne Lise Borresen-Dale, Wei Zheng, Alicia Beeghly-Fadiel, Mervi Grip, Irene L Andrulis, Gord Glendon, Peter Devilee, Caroline Seynaeve, Maartje J Hooning, Margriet Collée, Angela Cox, Simon S Cross, Mitul Shah, Robert N Luben, Ute Hamann, Diana Torres, Anna Jakubowska, Jan Lubinski, Fergus J Couch, Drakoulis Yannoukakos, Nick Orr, Anthony Swerdlow, Hatef Darabi, Jingmei Li, Kamila Czene, Per Hall, Douglas F Easton, Johanna Mattson, Carl Blomqvist, Kristiina Aittomäki, Heli Nevanlinna, Morteza Aghmesheh, David Amor, Lesley Andrews, Yoland Antill, Shane Armitage, Leanne Arnold, Rosemary Balleine, Agnes Bankier, Patti Bastick, Jonathan Beesley, John Beilby, Barbara Bennett, Ian Bennett, Geoffrey Berry, Anneke Blackburn, Michael Bogwitz, Meagan Brennan, Melissa Brown, Michael Buckley, Matthew Burgess, Jo Burke, Phyllis Butow, Keith Byron, David Callen, Ian Campbell, Deepa Chauhan, Alice Christian, Christine Clarke, Alison Colley, Dick Cotton, Ashley Crook, James Cui, Bronwyn Culling, Margaret Cummings, Sarah Jane Dawson, Anna DeFazio, Martin Delatycki, Rebecca Dickson, Joanne Dixon, Alexander Dobrovic, Tracy Dudding, Ted Edkins, Stacey Edwards, Maurice Eisenbruch, Gelareh Farshid, Susan Fawcett, Andrew Fellows, Georgina Fenton, Michael Field, Frank Firgaira, James Flanagan, Jean Fleming, Peter Fong, John Forbes, Stephen Fox, Juliet French, Michael Friedlander, Clara Gaff, Mac Gardner, Mike Gattas, Peter George, Grantley Gill, Jack Goldblatt, Sian Greening, Scott Grist, Eric Haan, Kate Hardie, Marion Harris, Stewart Hart, Nick Hayward, Sue Healey, Louise Heiniger, Evelyn Humphrey, Clare Hunt, Paul James, Mark Jenkins, Alison Jones, Rick Kefford, Alexa Kidd, Belinda Kiely, Judy Kirk, Jessica Koehler, James Kollias, Serguei Kovalenko, Sunil Lakhani, Amanda Leaming, Jennifer Leary, Jacqueline Lim, Geoff Lindeman, Lara Lipton, Liz Lobb, Graham Mann, Deborah Marsh, Sue Anne McLachlan, Bettina Meiser, Cliff Meldrum, Gillian Mitchell, Beth Newman, Sophie Nightingale, Shona O'Connell, Imeldao O'Loughlin, Richard Osborne, Nick Pachter, Briony Patterson, Lester Peters, Kelly Phillips, Melanie Price, Lynne Purser, Tony Reeve, Jeanne Reeve, Robert Richards, Edwina Rickard, Bridget Robinson, Barney Rudzki, Mona Saleh, Elizabeth Salisbury, Joe Sambrook, Christobel Saunders, Jodi Saunus, Robyn Sayer, Elizabeth Scott, Rodney Scott, Clare Scott, Ram Seshadri, Adrienne Sexton, Raghwa Sharma, Andrew Shelling, Peter Simpson, Amanda Spurdle, Graeme Suthers, Pamela Sykes, Donna Taylor, Jessica Taylor, Benjamin Thierry, Ella Thompson, Heather Thorne, Sharron Townshend, Alison Trainer, Lan Tran, Kathy Tucker, Janet Tyler, Jane Visvader, Logan Walker, Ian Walpole, Robin Ward, Paul Waring, Bev Warner, Graham Warren, Rachael Williams, Judy Wilson, Ingrid Winship, Kathy Wu, Mary Ann Young, R Stuart-Harris, F Kirsten, J Rutovitz, P Clingan, A Glasgow, A Proietto, S Braye, G Otton, J Shannon, T Bonaventura, J Stewart, S Begbie, D Bell, S Baron-Hay, A Ferrier, G Gard, D Nevell, N Pavlakis, S Valmadre, B Young, C Camaris, R Crouch, L Edwards, N Hacker, D Marsden, G Robertson, P Beale, J Beith, J Carter, C Dalrymple, R Houghton, P Russell, L Anderson, M Links, J Grygiel, J Hill, A Brand, K Byth, R Jaworski, P Harnett, G Wain, D Purdie, D Whiteman, B Ward, D Papadimos, A Crandon, K Horwood, A Obermair, L Perrin, D Wyld, J Nicklin, SAM Davy, MK Oehler, C Hall, T Dodd, T Healy, K Pittman, D Henderson, J Miller, J Pierdes, A Achan, P Blomfield, D Challis, R McIntosh, A Parker, B Brown, R Rome, D Allen, P Grant, S Hyde, R Laurie, M Robbie, D Healy, T Jobling, T Manolitsas, J McNealage, P Rogers, B Susil, E Sumithran, I Simpson, I Haviv, D Rischin, D Johnson, S Lade, M Loughrey, N O'Callaghan, B Murray, L Mileshkin, P Allan, V Billson, J Pyman, D Neesham, M Quinn, A Hamilton, O McNally, C Underhill, R Bell, LF Ng, R Blum, V Ganju, I Hammond, Y Leung, A McCartney, C Stewart, N Zeps
مصطلحات موضوعية: Breast Neoplasms, DNA-Binding Proteins, Female, Finland, Genetic Predisposition to Disease, Genotyping Techniques, Haplotypes, Heterozygote, Humans, Male, Middle Aged, Mutation, Missense, Polymorphism, Single Nucleotide, MD Multidisciplinary
Relation: http://hdl.handle.net/10536/DRO/DU:30111882; https://figshare.com/articles/journal_contribution/RAD51B_in_familial_breast_cancer/20798398
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9
المؤلفون: Liane Ioannou, Sharon Lewis, Vicki Petrou, John Massie, Sylvia A Metcalfe, MaryAnne Aitken, Martin B. Delatycki, AA Gason, Agnes Bankier
المصدر: Clinical Genetics. 78:21-31
مصطلحات موضوعية: medicine.medical_specialty, Adolescent, media_common.quotation_subject, Population, Screening programme, Surveys and Questionnaires, Genetics, medicine, Humans, Ashkenazi Jewish, Genetic Testing, Students, education, Genetics (clinical), media_common, education.field_of_study, Tay-Sachs Disease, Genetic Carrier Screening, Knowledge level, Tay-Sachs disease, Australia, Genetic Diseases, Inborn, Patient Acceptance of Health Care, medicine.disease, Feeling, Jews, Family medicine, Cohort, Anxiety, medicine.symptom, Psychology
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10
المؤلفون: Susan M. White, Sylvea Corrie, David Francis, Claudine Rieubland, Leonie Houben, Agnes Bankier
المصدر: American Journal of Medical Genetics Part A. :1523-1528
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Aneuploidy, Skin Pigmentation, Trisomy, Infant, Newborn, Diseases, Fatal Outcome, Genetics, Humans, Medicine, Abnormalities, Multiple, Genetics (clinical), Hypospadias, Polydactyly, Mosaicism, business.industry, Infant, Newborn, Infant, Dysostosis, Trisomy 16, Anatomy, medicine.disease, Uniparental disomy, Skin hyperpigmentation, Failure to thrive, Female, medicine.symptom, business, Chromosomes, Human, Pair 16
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11
المؤلفون: MaryAnne Aitken, Agnes Bankier, Amy Nisselle, Eilís Hughes, Robin Forbes
المصدر: American Journal of Medical Genetics Part A. :2266-2274
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Victoria, media_common.quotation_subject, Surveys and Questionnaires, Genetics, medicine, Humans, Quality (business), Marketing, Genetics (clinical), Consumer behaviour, Quality of Health Care, media_common, Service (business), Response rate (survey), Genetic Services, business.industry, Public health, Community Participation, Health services research, Consumer Behavior, Middle Aged, Test (assessment), Public transport, Female, Health Services Research, business, Psychology
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12
المؤلفون: Agnes Bankier, Melanie Bahlo, David J. Amor, Hans-Henrik M. Dahl
المصدر: American Journal of Medical Genetics Part A. :2236-2241
مصطلحات موضوعية: Adult, Male, Genetic Linkage, FG syndrome, Hearing loss, Deafness, Nose, Fingers, Gene mapping, Genetic linkage, Nasodigitoacoustic syndrome, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), X chromosome, Dystonia, Chromosomes, Human, X, business.industry, Chromosome Mapping, Infant, Genetic Diseases, X-Linked, Syndrome, Toes, medicine.disease, Pedigree, Xq28, Female, medicine.symptom, business
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13
المؤلفون: John L. Hopper, Agnes Bankier, Mary B. Daly, Stuart Peacock, Carmel Apicella, Katherine L. Tucker, Lesley Andrews
المصدر: British Journal of Cancer
مصطلحات موضوعية: Adult, Cancer Research, medicine.medical_specialty, client preferences, Genetic counseling, Decision Making, MEDLINE, Breast Neoplasms, Genetic Counseling, Choice Behavior, breast cancer, Breast cancer, medicine, Humans, Genetic Testing, Israel, BRCA1 and BRCA2, Aged, Genetic testing, Gynecology, Service (business), medicine.diagnostic_test, business.industry, discrete choice experiment, Genetics and Genomics, Middle Aged, medicine.disease, Preference, Ashkenazi jews, Test (assessment), Oncology, Ashkenazi, Jews, Family medicine, Female, business, genetic counselling
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14
المؤلفون: Stuart Peacock, Katherine L. Tucker, Mary B. Daly, Agnes Bankier, Carmel Apicella, Lesley Andrews, John L. Hopper
المصدر: Familial Cancer. 5:159-167
مصطلحات موضوعية: Adult, Cancer Research, medicine.medical_specialty, Service delivery framework, Genetic counseling, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Genetic Counseling, Breast cancer, Epidemiology, Genetics, medicine, Humans, Cancer Family, Genetics (clinical), Aged, Gynecology, Response rate (survey), business.industry, Middle Aged, medicine.disease, Preference, Test (assessment), Logistic Models, Oncology, Patient Satisfaction, Female, business, Demography
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15
المؤلفون: Agnes Bankier, George McGillivray, Timothy C. Cox, R. J. M. Gardner, Tony Roscioli, Ravi Savarirayan, Shireen R. Lamandé, C Stojkoski, John F. Bateman, Robyn McNeil
المصدر: Journal of Medical Genetics. 42:656-662
مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_specialty, DNA Mutational Analysis, Craniosynostoses, Biology, Craniosynostosis, Intellectual Disability, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Receptor, Fibroblast Growth Factor, Type 2, Genetics (clinical), Skull, Scaphocephaly, Syndrome, Anatomy, Synostosis, medicine.disease, Pedigree, Protein Structure, Tertiary, Sagittal suture, Endocrinology, medicine.anatomical_structure, Sagittal synostosis, Mutation, Female, Novel mutation, Letter to JMG
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16
المؤلفون: K Gibson, Jane Halliday, David J. Amor, S White, Susan M. White, Agnes Bankier, Martin B. Delatycki, Alexa Kidd, Eric Haan, Anne M. Turner, Michael C Fahey, Elizabeth Thompson, Anne Baxendale, Ravi Savarirayan
المصدر: American Journal of Medical Genetics. :118-127
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Birth weight, Kabuki, Behavioral Symptoms, Growth, Overweight, Intellectual Disability, Intellectual disability, medicine, Birth Weight, Humans, Abnormalities, Multiple, Child, Genetics (clinical), business.industry, Australia, Infant, Syndrome, medicine.disease, Obesity, Natural history, Phenotype, Child, Preschool, Face, Failure to thrive, Female, medicine.symptom, business, Head, Kabuki syndrome, New Zealand
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17
المؤلفون: Sheila A. Fisher, Ellen Solomon, Michael Friedlander, Deon J. Venter, Agnes Bankier, Cathryn M. Lewis, Melissa C. Southey, John L. Hopper, Carmel Apicella, Katherine L. Tucker, Lesley Andrews, Shirley Hodgson
المصدر: Breast Cancer Research : BCR
مصطلحات موضوعية: Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, endocrine system diseases, Genetic counseling, Breast Neoplasms, Gene mutation, Germline mutation, Breast cancer, breast cancer, medicine, Humans, Family history, skin and connective tissue diseases, Medicine(all), Gynecology, BRCA2 Protein, Family Health, Ovarian Neoplasms, business.industry, BRCA1 Protein, Australia, Odds ratio, medicine.disease, BRCA1, mutations, BRCA2, Ashkenazi jews, United Kingdom, Ashkenazi Jews, ovarian cancer, Logistic Models, Jews, Mutation (genetic algorithm), Mutation, Female, business, Demography, Research Article
وصف الملف: application/pdf
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18
المؤلفون: AA Gason, Agnes Bankier, MaryAnne Aitken, K Barlow Stewart, Edith Sheffield, Martin B. Delatycki, Sylvia A Metcalfe
المصدر: Clinical Genetics. 63:386-392
مصطلحات موضوعية: medicine.medical_specialty, education.field_of_study, medicine.diagnostic_test, Genetic counseling, Population, Carrier testing, Ashkenazi jews, Test (assessment), Family medicine, Genetics, medicine, Psychology, education, Genetics (clinical), Mass screening, Genetic testing, Blood sampling
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19
المؤلفون: Susan M. White, David J. Amor, Agnes Bankier, Lesley C. Adès, Meredith Wilson, Jan Liebelt, Emma Baker, Ravi Savarirayan
المساهمون: University of Groningen
المصدر: Clinical dysmorphology, 12(2), 109-113. LIPPINCOTT WILLIAMS & WILKINS
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, PTOSIS, Hearing loss, HYPOPLASTIC TEETH, macromolecular substances, Blepharophimosis, Pathology and Forensic Medicine, Ptosis, Intellectual Disability, GIRL, Intellectual disability, medicine, Blepharoptosis, Humans, OHDO SYNDROME, Hearing Loss, Ohdo syndrome, Genetics (clinical), BLEPHAROPHIMOSIS SYNDROME, business.industry, FACIES, Infant, Newborn, Infant, General Medicine, medicine.disease, Phenotype, Hypoplasia, HYPOTHYROIDISM, Child, Preschool, Pediatrics, Perinatology and Child Health, Anatomy, Abnormality, medicine.symptom, business, MENTAL-RETARDATION
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20
المؤلفون: Kathryn N. North, Nigel G. Laing, Alison Colley, Ros Quinlivan, Thierry Kuntzer, D. James, Heinz Jungbluth, Mark R. Davis, P. Tomlinson, Joanne Dixon, Agi K. Gedeon, Caroline Sewry, A. Sanchez, Eric Haan, Clemens R. Müller, P. Walsh, L. Nagarajan, Christine Oley, Phillipa J. Lamont, Agnes Bankier, Francesco Muntoni
المصدر: Neuromuscular Disorders. 13:151-157
مصطلحات موضوعية: Genotype, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Biology, Exon, Nemaline myopathy, Muscular Diseases, medicine, Humans, Myopathy, Central Core, Polymorphism, Single-Stranded Conformational, Genetics (clinical), DNA Primers, Genes, Dominant, RYR1, Genetics, Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, Ryanodine Receptor Calcium Release Channel, Exons, medicine.disease, Penetrance, Molecular biology, Congenital myopathy, Peptide Fragments, Pedigree, Protein Structure, Tertiary, Transmembrane domain, Haplotypes, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Central core disease
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