المؤلفون: Ozge Ceyhan-Birsoy, Elise Fiala, Satshil Rana, Margaret Sheehan, Jennifer Kennedy, Zarina Yelskaya, Vikas Rai, Yirong Li, Ciyu Yang, Donna Wong, Ivelise Rijo, Jacklyn Casanova, Joshua Somar, Nikita Mehta, Hyeonjin Park, Silvana Ostafi, Kanika Arora, Angelika Padunan, Mark D. Ewalt, Umut Aypar, Panieh Terraf, Maksym Misyura, Sofia Haque, Gerald G. Behr, Tamanna Haque, Maria Sulis, Mark B. Geyer, Christopher Forlenza, Meghan C. Thompson, Maria Carlo, Alicia Latham, Ying Liu, Ahmet Zehir, Rose Brannon, Michael Berger, Luis A Diaz Jr, Ahmet Dogan, Marc Ladanyi, Kseniya Petrova-Drus, Khedoudja Nafa, Kenneth Offit, Maria Arcila, Zsofia K. Stadler, Michael F. Walsh, Diana Mandelker

المصدر: Haematologica, Vol 999, Iss 1 (2024)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://haematologica.org/article/view/11544Test; https://doaj.org/toc/0390-6078Test; https://doaj.org/toc/1592-8721Test

الوصول الحر: https://doaj.org/article/f666218e110145a987b006840114e720Test

المؤلفون: Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/360ad6a6ef7c4ee28aed4090b30bd7e5Test

المؤلفون: Lot Snijders Blok, Justine Rousseau, Joanna Twist, Sophie Ehresmann, Motoki Takaku, Hanka Venselaar, Lance H. Rodan, Catherine B. Nowak, Jessica Douglas, Kathryn J. Swoboda, Marcie A. Steeves, Inderneel Sahai, Connie T. R. M. Stumpel, Alexander P. A. Stegmann, Patricia Wheeler, Marcia Willing, Elise Fiala, Aaina Kochhar, William T. Gibson, Ana S. A. Cohen, Ruky Agbahovbe, A. Micheil Innes, P. Y. Billie Au, Julia Rankin, Ilse J. Anderson, Steven A. Skinner, Raymond J. Louie, Hannah E. Warren, Alexandra Afenjar, Boris Keren, Caroline Nava, Julien Buratti, Arnaud Isapof, Diana Rodriguez, Raymond Lewandowski, Jennifer Propst, Ton van Essen, Murim Choi, Sangmoon Lee, Jong H. Chae, Susan Price, Rhonda E. Schnur, Ganka Douglas, Ingrid M. Wentzensen, Christiane Zweier, André Reis, Martin G. Bialer, Christine Moore, Marije Koopmans, Eva H. Brilstra, Glen R. Monroe, Koen L. I. van Gassen, Ellen van Binsbergen, Ruth Newbury-Ecob, Lucy Bownass, Ingrid Bader, Johannes A. Mayr, Saskia B. Wortmann, Kathy J. Jakielski, Edythe A. Strand, Katja Kloth, Tatjana Bierhals, The DDD study, John D. Roberts, Robert M. Petrovich, Shinichi Machida, Hitoshi Kurumizaka, Stefan Lelieveld, Rolph Pfundt, Sandra Jansen, Pelagia Deriziotis, Laurence Faivre, Julien Thevenon, Mirna Assoum, Lawrence Shriberg, Tjitske Kleefstra, Han G. Brunner, Paul A. Wade, Simon E. Fisher, Philippe M. Campeau

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/2f149b8196854879821d3ece66218bf2Test

المؤلفون: Omar Abdel-Wahab, Pau Castel, R. Coleman Lindsley, Frank McCormick, Neal Rosen, Justin Taylor, Sebastien Monette, Daichi Inoue, Michael F. Walsh, Elise Fiala, Tatiana S. Pavletich, Benjamin H. Durham, Steven Tittley, Dan Cui, Michael Singer, Caroline Erickson, Hana Cho, Robert F. Stanley, Won Jun Kim, Katherine Knorr, Salima Benbarche, Eric Wang, Simon J. Hogg, Bin Lu, Antonio Cuevas-Navarro, Rahul S. Vedula, Sisi Chen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::638f740c019d5ee713529476708607c2Test
https://doi.org/10.1158/2159-8290.c.6549783.v1Test

المؤلفون: Omar Abdel-Wahab, Pau Castel, R. Coleman Lindsley, Frank McCormick, Neal Rosen, Justin Taylor, Sebastien Monette, Daichi Inoue, Michael F. Walsh, Elise Fiala, Tatiana S. Pavletich, Benjamin H. Durham, Steven Tittley, Dan Cui, Michael Singer, Caroline Erickson, Hana Cho, Robert F. Stanley, Won Jun Kim, Katherine Knorr, Salima Benbarche, Eric Wang, Simon J. Hogg, Bin Lu, Antonio Cuevas-Navarro, Rahul S. Vedula, Sisi Chen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91b02038ca94f1d0b396e493d0f80407Test
https://doi.org/10.1158/2159-8290.22542018Test

المؤلفون: Tina Hsu BA, Carrie C. Coughlin MD, Kristin G. Monaghan PhD, FACMG, Elise Fiala MS, Robert C. McKinstry MD, PhD, Alex R. Paciorkowski MD, Marwan Shinawi MD, FACMG

المصدر: Child Neurology Open, Vol 4 (2017)

مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://doi.org/10.1177/2329048X17733214Test; https://doaj.org/toc/2329-048XTest; https://doaj.org/article/aa7579ae3e11453faec296800208cfabTest

الإتاحة: https://doi.org/10.1177/2329048X17733214Test
https://doaj.org/article/aa7579ae3e11453faec296800208cfabTest

المؤلفون: Sisi Chen, Rahul S. Vedula, Antonio Cuevas-Navarro, Bin Lu, Simon J. Hogg, Eric Wang, Salima Benbarche, Katherine Knorr, Won Jun Kim, Robert F. Stanley, Hana Cho, Caroline Erickson, Michael Singer, Dan Cui, Steven Tittley, Benjamin H. Durham, Tatiana S. Pavletich, Elise Fiala, Michael F. Walsh, Daichi Inoue, Sebastien Monette, Justin Taylor, Neal Rosen, Frank McCormick, R. Coleman Lindsley, Pau Castel, Omar Abdel-Wahab

المصدر: Cancer Discov
Cancer discovery, vol 12, iss 10

مصطلحات موضوعية: Leukemia, Oncology and Carcinogenesis, Hematology, Stem Cell Research, Cullin Proteins, Article, Proto-Oncogene Proteins p21(ras), Rare Diseases, Oncology, Proteolysis, ras Proteins, 2.1 Biological and endogenous factors, Humans, Guanosine Triphosphate, Aetiology, Protein Kinase Inhibitors, Cancer, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2422ecd70e02ecda2ef368c37f35c3Test
https://pubmed.ncbi.nlm.nih.gov/35904492Test

المؤلفون: Evan R Hathaway, Kenneth Offit, Jennifer Kennedy, Nicole Ali McNeer, Dominik Glodzik, Michael P. La Quaglia, Yelena Kemel, Peter G. Steinherz, Danielle Novetsky Friedman, Alex Kentsis, Alicia Latham, Arupa Ganguly, Todd Heaton, Karen Cadoo, Kelly A. Duffy, Andrew Kung, Michael V. Ortiz, Elli Papaemmanuil, Kaitlyn Tkachuk, Zsofia K. Stadler, Marianne Dubard Gault, Vijai Joseph, Justin T. Gerstle, Megan Harlan Fleischut, Michael Walsh, Elise Fiala, Jennifer M. Kalish, Nancy Bouvier, Neerav Shukla, Maria I. Carlo

المصدر: Cancer

مصطلحات موضوعية: Adult, Hepatoblastoma, Male, Cancer Research, Beckwith-Wiedemann Syndrome, Adolescent, Beckwith–Wiedemann syndrome, Wilms Tumor, Germline, Discipline, Genomic Imprinting, Young Adult, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, 030212 general & internal medicine, Epigenetics, Imprinting (psychology), Child, Germ-Line Mutation, business.industry, Chromosomes, Human, Pair 11, Infant, Wilms' tumor, Original Articles, Methylation, DNA Methylation, medicine.disease, Pediatric cancer, Neoplasm Proteins, Beckwith‐Wiedemann syndrome, Oncology, Pediatric Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Cancer research, Female, Original Article, methylation, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4b6a157bcfcf19696b91eca00a46b85Test
https://doi.org/10.1002/cncr.32907Test

المؤلفون: Yasmin Khakoo, Maria I. Carlo, Elise Fiala, Ozge Ceyhan-Birsoy, Leonard H. Wexler, Nancy Bouvier, Diana Mandelker, Jasmine H. Francis, Alicia Latham, Sowmya Jairam, Marc Ladanyi, Gowtham Jayakumaran, Sameer Farouk Sait, Filemon S. Dela Cruz, Ira J. Dunkel, Michael Walsh, Michael F. Berger, Todd E. Heaton, Ellen M. Basu, Matthias A. Karajannis, Ciyu Yang, Christopher J. Forlenza, Neerav Shukla, Emily K. Slotkin, Julia Glade Bender, Tanya M. Trippett, Nai-Kong Cheung, Danielle Novetsky Friedman, Justin T. Gerstle, Semanti Murkherjee, Ahmet Zehir, Zsofia K. Stadler, Erin E. Salo-Mullen, Maria Luisa Sulis, Yelena Kemel, Karen Cadoo, Sabine Topka, Jennifer Kennedy, Megan Harlan Fleischut, Nikolaus Schultz, Richard J. O'Reilly, Anna Maio, Margaret Sheehan, Shakeel Modak, Michael V. Ortiz, Alex Kentsis, Andrew L. Kung, Paul A. Meyers, Stephen S. Roberts, Kenneth Offit, Angela G. Arnold, Mark E. Robson, David H. Abramson, Stephen Gilheeney, Liying Zhang, Audrey Mauguen, Joseph Vijai

المصدر: Nat Cancer
Nature cancer, vol 2, iss 3

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, Cascade testing, Pediatric Cancer, Germline, Article, Rare Diseases, Clinical Research, Internal medicine, Neoplasms, Genetics, medicine, 2.1 Biological and endogenous factors, Humans, Genetic Predisposition to Disease, Genetic Testing, Prospective Studies, Aetiology, Child, Likely pathogenic, Germ-Line Mutation, Cancer, Pediatric, screening and diagnosis, Pan cancer, business.industry, Human Genome, medicine.disease, Penetrance, Pediatric cancer, Detection, Good Health and Well Being, Germ Cells, Medical genetics, business, 4.2 Evaluation of markers and technologies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::450b67a842a84fb60b1c81f5f10dc8eaTest
https://pubmed.ncbi.nlm.nih.gov/34308366Test

المؤلفون: Ying L Liu, Michael F. Berger, Marc Ladanyi, Ahmet Zehir, Erin E. Salo-Mullen, Alicia Latham, Joseph Vijai, Karen Cadoo, Yuhan Wang, Michael Walsh, Yelena Kemel, A. Rose Brannon, Zsofia K. Stadler, Anna Maio, Venkatraman E. Seshan, Chaitanya Bandlamudi, Diana Mandelker, Sami Belhadj, Margaret Sheehan, Marianne E Dubard-Gault, Dean F. Bajorin, Sita Dandiker, Semanti Mukherjee, Maria I. Carlo, Kenneth Offit, David B. Solit, Mark E. Robson, Bryan Devolder, Kaitlyn Tkachuk, Vignesh Ravichandran, Aliya Khurram, Elise Fiala

المصدر: Cancer Epidemiol Biomarkers Prev

مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, Epidemiology, Germline, Article, Loss of heterozygosity, Neoplasms, Multiple Primary, Prostate, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Melanoma, Germ-Line Mutation, business.industry, Incidence (epidemiology), Confounding, Cancer, Prostatic Neoplasms, Neoplasms, Second Primary, medicine.disease, Phenotype, medicine.anatomical_structure, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74651e4152a8aa22c6fbd8eaaba63819Test
https://pubmed.ncbi.nlm.nih.gov/35131867Test