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1دورية أكاديمية
المؤلفون: Nikita R. Dsouza, Catherine E. Cottrell, Olivia M. T. Davies, Megha M. Tollefson, Ilona J. Frieden, Donald Basel, Raul Urrutia, Beth A. Drolet, Michael T. Zimmermann
المصدر: Life, Vol 14, Iss 3, p 297 (2024)
مصطلحات موضوعية: precision medicine, genomics, genomic data interpretation, overgrowth, undergrowth, PI3K, Science
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Michael S Broder, Denise M Adams, Guillame Canaud, Christy Collins, Kristen Davis, Ilona J. Frieden, Sarah N Gibbs, Adrienne M Hammill, Kim M Keppler-Noreuil, Taizo A Nakano, Anthony Penington, Siddharth Srivastava, Megha M Tollefson, Matthew L Warman
المصدر: Journal of Vascular Anomalies, Vol 4, Iss 2, p e067 (2023)
مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Sarah E. Sheppard, Michael E. March, Christoph Seiler, Leticia S. Matsuoka, Sophia E. Kim, Charlly Kao, Adam I. Rubin, Mark R. Battig, Nahla Khalek, Erica Schindewolf, Nora O’Connor, Erin Pinto, Jessica R.C. Priestley, Victoria R. Sanders, Rojeen Niazi, Arupa Ganguly, Cuiping Hou, Diana Slater, Ilona J. Frieden, Thy Huynh, Joseph T. Shieh, Ian D. Krantz, Jessenia C. Guerrero, Lea F. Surrey, David M. Biko, Pablo Laje, Leslie Castelo-Soccio, Taizo A. Nakano, Kristen Snyder, Christopher L. Smith, Dong Li, Yoav Dori, Hakon Hakonarson
المصدر: JCI Insight, Vol 8, Iss 9 (2023)
مصطلحات موضوعية: Cardiology, Genetics, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2379-3708
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4دورية أكاديمية
المؤلفون: Leah Lalor, MD, Ilona J. Frieden, MD, John Barbieri, MD, MBA, Andrea Zaenglein, MD, Arash Mostaghimi, MD, MPA, MPH, Bruce Brod, MD, MHCI
المصدر: JAAD Case Reports, Vol 29, Iss , Pp 167-168 (2022)
مصطلحات موضوعية: Dermatology, RL1-803
وصف الملف: electronic resource
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5
المؤلفون: Esteban, Fernández Faith, Sonal D, Shah, Mitchell, Braun, Elena, Pope, Irene, Lara-Corrales, Patricia M, Witman, Katya, Harfmann, Flora, Bradley, Rohali, Keesari, Kenneth, Jackson, Alexandra, Hallagan, Ilona J, Frieden
المصدر: Journal of the American Academy of Dermatology. 88:414-420
مصطلحات موضوعية: Dermatology
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6دورية أكاديمية
المؤلفون: Ayushi Gautam, Zhengda Sun, Ethan Winkler, Hua Su, Timothy H. McCalmont, Helen Kim, Tarik Tihan, William Y. Hoffman, Chris F. Dowd, Ilona J. Frieden, Daniel L. Cooke
المصدر: Interdisciplinary Neurosurgery, Vol 20, Iss , Pp - (2020)
مصطلحات موضوعية: Surgery, RD1-811, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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7
المؤلفون: Olivia M. T. Davies, Ashley T. Ng, Jennifer Tran, Shoshana Blumenthal, Lisa M. Arkin, Amy J. Nopper, Catherine E. Cottrell, Maria Garzon, Dawn H. Siegel, Ilona J. Frieden, Beth A. Drolet
المصدر: Pediatric Dermatology. 39:914-919
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Dermatology
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8
المؤلفون: Lucinda L. Kohn, Mitchell Braun, Kelly M. Cordoro, Timothy H. McCalmont, Sonal D. Shah, Ilona J. Frieden, Anubhav N. Mathur
المصدر: Pediatric Dermatology. 39:84-90
مصطلحات موضوعية: Male, Ectodermal Dysplasia, Mutation, Pediatrics, Perinatology and Child Health, Immunologic Deficiency Syndromes, Humans, Female, Incontinentia Pigmenti, Dermatology, I-kappa B Kinase, Retrospective Studies
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9
المؤلفون: Donald J. Corsmeier, Michael J. Evenson, Katinka Vigh-Conrad, Vincent Magrini, Beth A. Drolet, Nicole R. Bender, Robert K. Semple, Matthew Avenarius, Andrea L. Zaenglein, Jeffrey N. Dudley, Meagan Corliss, Jonathan W. Heusel, Ilona J. Frieden, Jennifer J. Johnston, Carrie C. Coughlin, Catherine E. Cottrell, Heather Ciliberto, Laura L. Tosi, Leslie G. Biesecker, Marjorie J. Lindhurst, Megha M. Tollefson, Olivia M. T. Davies, Michael T. Zimmermann
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 10
Cottrell, C E, Bender, N R, Zimmermann, M, Heusel, J, Corliss, M, Evenson, M, Magrini, V, Corsmeier, D J, Avenarius, M, Dudley, J N, Johnston, J, Lindhurst, M J, Vigh-Conrad, K, Davies, O M T, Coughlin, C C, Frieden, I J, Tollefson, M, Zaenglein, A L, Ciliberto, H, Tosi, L L, Semple, R K, Biesecker, L G & Drolet, B A 2021, ' Somatic PIK3R1 Variation as a Cause of Vascular Malformations and Overgrowth ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01211-z
Genetics in Medicineمصطلحات موضوعية: 0301 basic medicine, Vascular Malformations, Somatic cell, Clinical Sciences, Limb Deformities, Congenital, Biology, medicine.disease_cause, Article, Congenital, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, 0302 clinical medicine, PIK3R1, Genetic variation, Genetics, medicine, Humans, 2.1 Biological and endogenous factors, Lymphatic malformations, Aetiology, Genetics (clinical), Cancer, Pediatric, Genetics & Heredity, Mutation, Prevention, Human Genome, Phenotype, Large cohort, PI3K complex, Class Ia Phosphatidylinositol 3-Kinase, Limb Deformities, 030104 developmental biology, 030220 oncology & carcinogenesis, Congenital Structural Anomalies, Signal Transduction
وصف الملف: application/pdf
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10
المصدر: Pediatric Hematology and Oncology. :1-2
مصطلحات موضوعية: Oncology, Pediatrics, Perinatology and Child Health, Hematology