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1دورية أكاديمية
المؤلفون: Maria Ochoa, Roman Jurencak, Kevin Smit, Sasha Carsen, Sarah L. Sawyer, Marie-Eve Robinson, Karine Khatchadourian, Hooi Peng Cheng, Marika Pagé, Joel Werier, Leanne Marie Ward
المصدر: Bone Reports, Vol 19, Iss , Pp 101695- (2023)
مصطلحات موضوعية: Acetazolamide, Familial tumoral calcinosis, GLANT3 mutation, Sevelamer, Anti-IL1 beta antibody, Probenecid, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2352187223000438Test; https://doaj.org/toc/2352-1872Test
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2دورية أكاديمية
المؤلفون: Alison M. R. Castle (14373480), Brianna Empringham (14373483), Lisa M Pinto (14373486), Anita Villani (13263921), Nisha Kanwar (14373489), Lesleigh S. Abbott (14373492), Sarah L Sawyer (14373495)
مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Cancer, Computational Biology, Chemical Sciences not elsewhere classified, Neurofibromatosis Type 1, rhabdomyosarcoma
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3
المؤلفون: Alison M. R. Castle, Brianna Empringham, Lisa M Pinto, Anita Villani, Nisha Kanwar, Lesleigh S. Abbott, Sarah L Sawyer
المصدر: Pediatric Hematology and Oncology. :1-10
مصطلحات موضوعية: Oncology, Pediatrics, Perinatology and Child Health, Hematology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::87120c7efea67b628ebf7d0efa29137bTest
https://doi.org/10.1080/08880018.2022.2153951Test -
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المؤلفون: Grace Uwaila, Ediae, Gabrielle, Lemire, Caitlin, Chisholm, Taila, Hartley, Alison, Eaton, Matthew, Osmond, Samantha K, Rojas, Lijia, Huang, Meredith, Gillespie, Sarah L, Sawyer, Kym M, Boycott
المصدر: American Journal of Medical Genetics Part A. 191:338-347
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833b228c473e139cc1685b1da73ce0aeTest
https://doi.org/10.1002/ajmg.a.63022Test -
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المؤلفون: Roger A. Greenberg, Jukka S. Moilanen, Lisa A. Moreau, Kym M. Boycott, A. Micheil Innes, David A. Dyment, Jacek Majewski, Martin Kircher, Jeremy Schwartzentruber, Marketta Kähkönen, Lei Tian, Sarah L. Sawyer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40f20d1c057843a50a7b64621f017be9Test
https://doi.org/10.1158/2159-8290.22530594.v1Test -
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المؤلفون: Roger A. Greenberg, Jukka S. Moilanen, Lisa A. Moreau, Kym M. Boycott, A. Micheil Innes, David A. Dyment, Jacek Majewski, Martin Kircher, Jeremy Schwartzentruber, Marketta Kähkönen, Lei Tian, Sarah L. Sawyer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0532760bd962cbf7fc57649914de88e2Test
https://doi.org/10.1158/2159-8290.22530600.v1Test -
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المؤلفون: Roger A. Greenberg, Jukka S. Moilanen, Lisa A. Moreau, Kym M. Boycott, A. Micheil Innes, David A. Dyment, Jacek Majewski, Martin Kircher, Jeremy Schwartzentruber, Marketta Kähkönen, Lei Tian, Sarah L. Sawyer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebbbb4ebee3c4a85595c8bb0dede092dTest
https://doi.org/10.1158/2159-8290.22530597Test -
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المؤلفون: Tugce B. Balci, Michael Brudno, Willie H. Chang, Annie Olry, Peter N. Robinson, Sylvie Maiella, Brittney Johnstone, Mia Husić, Sarah L. Sawyer, Pouria Mashouri, Alexander X. Lozano, Ana Rath
المصدر: Genetics in Medicine. 22:1391-1400
مصطلحات موضوعية: 0301 basic medicine, Information retrieval, business.industry, Computer science, Gold standard (test), 030105 genetics & heredity, Crowdsourcing, 03 medical and health sciences, Annotation, Identification (information), 030104 developmental biology, Documentation, Knowledge base, Similarity (psychology), Web application, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fd91cdfd0cb1dfa117fbd8d0ffcc4347Test
https://doi.org/10.1038/s41436-020-0812-7Test -
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المؤلفون: Joseph de Nanassy, Chunyan Wang, Kristin D. Kernohan, Ruobing Zou, Gabrielle Lemire, Bryan Lo, Priya T. Bhola, Shirlee Shril, Caitlin Chisholm, Sherif El Desoky, Sarah L. Sawyer, Grace U Ediae, Jameela A. Kari, Kym M. Boycott, Bixia Zheng, Friedhelm Hildebrandt, Xueqi Wang, Mohammed Shalaby
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pathology, medicine.medical_specialty, 030105 genetics & heredity, Kidney, Renal tubule morphogenesis, Article, Congenital Abnormalities, 03 medical and health sciences, Mice, Pregnancy, Genetics, medicine, Animals, Humans, Child, Urinary Tract, Renal agenesis, Genetics (clinical), business.industry, Homozygote, Infant, medicine.disease, Renal hypoplasia, Hypoplasia, Bilateral Renal Agenesis, Wnt Proteins, 030104 developmental biology, Kidney Tubules, Dysplasia, Agenesis, Urogenital Abnormalities, Female, Kidney Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ddfa02391d738882cd637ce5f06c9b8Test
https://europepmc.org/articles/PMC8446303Test/ -
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المؤلفون: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler
المساهمون: Clinical Genetics, Developmental Biology, Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P., Boycott, K. M., Barakat, T. S., Graham, J. M., Faivre, L., Banka, S., Wang, T., Eichler, E. E., Priolo, M., Dallapiccola, B., Vissers, L. E. L. M., Sadikovic, B., Scott, D. A., Holder, J. L., Tartaglia, M., MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516مصطلحات موضوعية: 0301 basic medicine, SHARP, Male, obesity, genotype-phenotype correlations, Autism Spectrum Disorder, PROTEIN, Chromosome Disorders, Haploinsufficiency, RNA-Binding Protein, PHENOTYPE CORRELATIONS, 1p36, distal 1p36 deletion syndrome, DNA methylome analysis, episignature, neurodevelopmental disorder, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, X, DNA Methylation, DNA-Binding Proteins, Epigenesis, Genetic, Female, Humans, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, RNA-Binding Proteins, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Neurodevelopmental Disorder, Intellectual disability, MOLECULAR CHARACTERIZATION, Genetics (clinical), Genetics, DNA methylome analysi, SPLIT-ENDS, Hypotonia, Autism spectrum disorder, MONOSOMY 1P36, Pair 1, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, DNA-Binding Protein, Biology, genotype-phenotype correlation, Chromosomes, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Report, REVEALS, medicine, Epigenetics, Preschool, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 1p36 deletion syndrome, IDENTIFICATION, MUTATIONS, medicine.disease, GENE, 030104 developmental biology, Chromosome Disorder, 030217 neurology & neurosurgery, Epigenesis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7Test
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184Test