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المؤلفون: Julia Newton-Bishop, D. Timothy Bishop, Margaret A. Knowles, Jennifer H. Barrett, Ian A. Cree, Katharine A. Parker, Floor de Kort, Andy Boon, Barry Powell, Martin Cook, Sara Edward, Maria Marples, Mark Harland, Jérémie Nsengimana, Samira Lobo, Juliette Randerson-Moor, Angana Mitra, Caroline Conway, Rosalyn Jewell
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120d6e86b0a48c517a031c016acb5e34
https://doi.org/10.1158/1078-0432.c.6519272.v1 -
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المؤلفون: Julia Newton-Bishop, D. Timothy Bishop, Margaret A. Knowles, Jennifer H. Barrett, Ian A. Cree, Katharine A. Parker, Floor de Kort, Andy Boon, Barry Powell, Martin Cook, Sara Edward, Maria Marples, Mark Harland, Jérémie Nsengimana, Samira Lobo, Juliette Randerson-Moor, Angana Mitra, Caroline Conway, Rosalyn Jewell
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ed4270ae579ba0699586461f4643537
https://doi.org/10.1158/1078-0432.22442582 -
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المؤلفون: Julia Newton-Bishop, D. Timothy Bishop, Margaret A. Knowles, Floor de Kort, Faye Elliott, Andy Boon, Barry Powell, Martin Cook, D. Scott Sanders, Sara Edward, Jrmie Nsengimana, Samira Lobo, Juliette Randerson-Moor, Rosalyn Jewell, Angana Mitra, Caroline Conway
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31f8dc2d49b7262dc047b1c2659ea3cf
https://doi.org/10.1158/1078-0432.c.6517423 -
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المؤلفون: Julia Newton-Bishop, D. Timothy Bishop, Margaret A. Knowles, Floor de Kort, Faye Elliott, Andy Boon, Barry Powell, Martin Cook, D. Scott Sanders, Sara Edward, Jrmie Nsengimana, Samira Lobo, Juliette Randerson-Moor, Rosalyn Jewell, Angana Mitra, Caroline Conway
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14754bb3fd645da3d8de2c23026dbf7f
https://doi.org/10.1158/1078-0432.22440046 -
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المؤلفون: Helen, Hanson, Anjana, Kulkarni, Lucy, Loong, Grace, Kavanaugh, Bethany, Torr, Sophie, Allen, Munaza, Ahmed, Antonis C, Antoniou, Ruth, Cleaver, Tabib, Dabir, D Gareth, Evans, Ellen, Golightly, Rosalyn, Jewell, Kelly, Kohut, Ranjit, Manchanda, Alex, Murray, Jennie, Murray, Kai-Ren, Ong, Adam N, Rosenthal, Emma Roisin, Woodward, Diana M, Eccles, Clare, Turnbull, Marc, Tischkowitz, Karin, Williamson
المصدر: Journal of medical genetics.
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المؤلفون: Marjolijn C.J. Jongmans, Rosalyn Jewell, Léa Guerrini-Rousseau, Lisa Golmard, Till Milde, Katharina Wimmer, Eamonn R. Maher, Franck Bourdeaut, Kathy Pritchard-Jones, Hélène Cavé, Laurence Brugières, Christian P. Kratz, Catriona Duncan, Sam Behjati, Marion Gauthier-Villars, Kristian W. Pajtler
المصدر: The Lancet Child & Adolescent Health. 5:142-154
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genetic counseling, MEDLINE, Cancer therapy, Medical Oncology, Risk Assessment, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, 030225 pediatrics, Developmental and Educational Psychology, Humans, Medicine, Genetic Predisposition to Disease, Genetic Testing, 030212 general & internal medicine, Child, Intensive care medicine, Genetic testing, Cancer prevention, medicine.diagnostic_test, business.industry, Paediatric oncology, Cancer, medicine.disease, Pediatrics, Perinatology and Child Health, Female, business, Risk assessment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35aac8112439ae13604c40a095d7dcd9
https://doi.org/10.1016/s2352-4642(20)30275-3 -
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المؤلفون: Sunayna, Best, Jing, Yu, Jenny, Lord, Matthew, Roche, Christopher Mark, Watson, Roel P J, Bevers, Alex, Stuckey, Savita, Madhusudhan, Rosalyn, Jewell, Sanjay M, Sisodiya, Siying, Lin, Stephen, Turner, Hannah, Robinson, Joseph S, Leslie, Emma, Baple, Carmel, Toomes, Chris, Inglehearn, Gabrielle, Wheway, S M, Wood
المصدر: Journal of medical genetics. 59(12)
مصطلحات موضوعية: Genotype, Genome, Human, Cell Cycle Proteins, Ciliopathies, State Medicine, Cytoskeletal Proteins, Phenotype, Antigens, Neoplasm, Genetics, Humans, Carrier Proteins, Bardet-Biedl Syndrome, Microtubule-Associated Proteins, Genetics (clinical)
وصف الملف: text
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المؤلفون: Rosalyn Jewell, Kathy Pritchard-Jones, Janna A. Hol, Annemieke S. Littooij, Christian P. Kratz, Marry M. van den Heuvel-Eibrink, Tanzina Chowdhury, Marjolijn C.J. Jongmans, Eamonn R. Maher, Marion Gauthier-Villars, Yasuhiko Kaneko, Franck Bourdeaut, Catriona Duncan, Takaharu Oue, Norbert Graf, Kayo Nakata
المساهمون: Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository
مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Host genome, Pediatrics, medicine.medical_specialty, Wilms tumour, Overgrowth syndrome, Renal tumour, Wilms Tumor, Novel gene, 03 medical and health sciences, 0302 clinical medicine, Cancer predisposition syndrome, Pediatric oncology, Medicine, Humans, Nephroblastoma, Surveillance, business.industry, Cancer predisposition, Genomics, WT1, Europe, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ed0c46155efbd511a36ad6dda6b2db2
https://www.repository.cam.ac.uk/handle/1810/331604 -
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المؤلفون: Zena Lam, Rosalyn Jewell, Kathryn R. Johnson
المصدر: Archives of disease in childhood. 106(7)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Referral, Adolescent, Alcohol Drinking, DNA Copy Number Variations, Specialty, Physical examination, Chromosome Disorders, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Pregnancy, 030225 pediatrics, medicine, Humans, Genetic Testing, Child, Maternal Behavior, Referral and Consultation, Genetic testing, Retrospective Studies, Comparative Genomic Hybridization, medicine.diagnostic_test, business.industry, Medical record, Genetic disorder, Genetic Diseases, Inborn, Infant, medicine.disease, Alcoholism, Fetal Alcohol Spectrum Disorders, Neurodevelopmental Disorders, Child, Preschool, Pediatrics, Perinatology and Child Health, Medical genetics, Female, business
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المصدر: BMJ Case Rep
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Resuscitation, Trisomy 13 Syndrome, Diabetic ketoacidosis, medicine.medical_treatment, Case Report, 030105 genetics & heredity, Diabetic Ketoacidosis, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, medicine, Fetal haemoglobin, Humans, Insulin, Family, Child, Glycated Hemoglobin, Type 1 diabetes, business.industry, Acute kidney injury, General Medicine, medicine.disease, Diabetes Mellitus, Type 1, Child, Preschool, business, Trisomy, 030217 neurology & neurosurgery