المؤلفون: Staci Martin, Elizabeth K. Schorry, James H. Tonsgard, Heather L. Thompson, Pamela L. Wolters, Christopher J. Funes, Andrea Baldwin, Cynthia M. Hingtgen, Barbara Franklin, Stephanie Reeve, Taryn Allen, Taylor F. Smith, Kimberley S. Koetsier, Ana-Maria Vranceanu, Vanessa L. Merker, Carolina Barnett

المصدر: Neurology

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Skin Neoplasms, Neurofibromatoses, Psychometrics, MEDLINE, Quality of life, Clinical endpoint, medicine, Humans, Patient Reported Outcome Measures, Neurofibromatosis, Child, Schwannomatosis, business.industry, medicine.disease, Clinical trial, Quality of Life, Physical therapy, Patient-reported outcome, Self Report, Neurology (clinical), Patient Reported Outcomes, business, Psychosocial, Neurilemmoma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8ab0f25b7d57c1dabbd1583290477d2Test
https://doi.org/10.1212/wnl.0000000000012421Test

المؤلفون: Kathleen Collins Ruff, Susan Wiley, Katherine Bowers, Joshua Webster, Ilka K. Riddle, Elizabeth K. Schorry

المصدر: Journal of Genetic Counseling. 31:153-163

مصطلحات موضوعية: Adult, Parents, Rubinstein-Taybi Syndrome, medicine.medical_specialty, Descriptive statistics, Family caregivers, business.industry, Communication, Health Personnel, media_common.quotation_subject, Genetic counseling, Qualitative property, Test (assessment), Caregivers, Feeling, Family medicine, Health care, medicine, Humans, Thematic analysis, Child, business, Psychology, Genetics (clinical), media_common

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24133f0d2a438427a5c21701310d5493Test
https://doi.org/10.1002/jgc4.1464Test

المؤلفون: B. Stephens Richards, Beverly Oberlander, Collin May, Elizabeth K. Schorry, Viral V. Jain, Andrea M. Gross, Nicole J. Ullrich, Jonathan J. Rios, Eva Dombi, Scott R. Plotkin, David A. Stevenson, Rachel Y. Goldstein, David Viskochil, Brigitte C. Widemann

المصدر: Journal of Pediatric Orthopaedics. 41:e90-e93

مصطلحات موضوعية: medicine.medical_specialty, Neurofibromatosis 1, Future studies, Bone Morphogenetic Protein 2, Iliac crest, Resection, law.invention, Intramedullary rod, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Randomized controlled trial, Transforming Growth Factor beta, law, medicine, Humans, Orthopedic Procedures, Orthopedics and Sports Medicine, Neurofibromatosis, Randomized Controlled Trials as Topic, 030222 orthopedics, Tibia, business.industry, Patient Selection, General Medicine, medicine.disease, Recombinant Proteins, Surgery, Clinical trial, Pseudarthrosis, medicine.anatomical_structure, Sample Size, Bone Morphogenetic Proteins, Pediatrics, Perinatology and Child Health, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3552cadd34c7c47caf14aa2d227a1442Test
https://doi.org/10.1097/bpo.0000000000001650Test

المؤلفون: Elizabeth K. Schorry, Justin T. Jordan, Scott R. Plotkin, Nicole J. Ullrich, Tena Rosser, Heather B. Radtke, David Viskochil, Laura J. Klesse, Kaleb Yohay, Pamela Knight

المصدر: The Oncologist

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Population, Antineoplastic Agents, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Neurofibromatosis, Clinical care, education, Child, neoplasms, Protein Kinase Inhibitors, Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, education.field_of_study, MEK inhibitor, business.industry, Plexiform neurofibroma, medicine.disease, nervous system diseases, Clinical trial, 030104 developmental biology, Symptom Management and Supportive Care, 030220 oncology & carcinogenesis, business, Medical therapy, Neurofibromatosis type 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc73b841a6fb57a26fa82c562ce136bTest
http://europepmc.org/articles/PMC7356675Test

المؤلفون: David H. Gutmann, Elizabeth K. Schorry, Roger J. Packer, Michael Fisher, Jonathan M. Payne, Maria T. Acosta, Natalie A. Pride, Bruce R. Korf, Tena Rosser, Rachel MacKenzie, Kristina M Haebich, Laura J. Klesse, David Coghill, Mark A. Bellgrove, James H. Tonsgard, David Viskochil, Kathryn N. North, Nicole J. Ullrich, Stephen Hearps, Karin S. Walsh, Belinda Barton

المصدر: Journal of Attention Disorders. 25:1177-1186

مصطلحات موضوعية: Neurofibromatosis 1, Adolescent, Psychological intervention, Neuropsychological Tests, behavioral disciplines and activities, Executive Function, 03 medical and health sciences, Cognition, 0302 clinical medicine, Quality of life, 030225 pediatrics, mental disorders, Developmental and Educational Psychology, medicine, Humans, Attention deficit hyperactivity disorder, Cognitive skill, Adhd symptoms, Neurofibromatosis, Child, Neuropsychology, medicine.disease, Clinical Psychology, Attention Deficit Disorder with Hyperactivity, Quality of Life, Psychology, 030217 neurology & neurosurgery, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6934ae11448805f85972c9e6c7f18f44Test
https://doi.org/10.1177/1087054719894384Test

المؤلفون: Joseph D. Ackerson, Celiane Rey-Casserly, David Coghill, Bruce R. Korf, Laura J. Klesse, Kathryn N. North, Maria T. Acosta, Karin S. Walsh, Stephen Hearps, Jonathan M. Payne, Michael Fisher, Tena Rosser, Gerard A. Gioia, Kristina M Haebich, Nicole J. Ullrich, David Viskochil, Iris Paltin, Alan B. Cantor, James H. Tonsgard, Elizabeth K. Schorry, Gary Cutter, Roger J. Packer, Belinda Barton, David H. Gutmann

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2555-2565 (2019)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, law.invention, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Randomized controlled trial, Double-Blind Method, law, Outcome Assessment, Health Care, medicine, Humans, Cognitive Dysfunction, Lovastatin, Child, RC346-429, Reliability (statistics), Research Articles, Clinical Trials as Topic, business.industry, Mechanism (biology), General Neuroscience, Neuropsychology, Reproducibility of Results, Cognition, Confirmatory factor analysis, Clinical trial, 030104 developmental biology, Clinical research, Female, Neurology (clinical), Neurology. Diseases of the nervous system, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, 030217 neurology & neurosurgery, Biomarkers, Research Article, RC321-571

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be10430123fde04023ee196e4dda8d9eTest
https://doaj.org/article/213a2426d5c645e994f7b2496477dbb2Test

المؤلفون: Matthias A. Karajannis, A Taylor, Diana Baralle, Rosalie E. Ferner, A Gomes, Dave Viskochil, J Toelen, Rianne Oostenbrink, Christopher L. Moertel, Laura Papi, Conxi Lázaro, H Wu, Michael D. Wilson, Shay Ben-Shachar, Pierre Wolkenstein, Sirkku Peltonen, Plotkin, P Joly, Dominique C. Pichard, Michael Fisher, Steinke-Lange, T Frébourg, P Ciavarelli, H Hanson, Mia MacCollin, I Blanco, D Bessis, Meena Upadhyaya, C Cassiman, Dusica Babovic-Vuksanovic, Riccardi, Juha Peltonen, James H. Tonsgard, B Poppe, Katharina Wimmer, M Larralde, P Pancza, A Heiberg, Bruce R. Korf, Mautner, D. G. R. Evans, Robert Listernick, Tena Rosser, S Barbarot, Eva Trevisson, D Stevenson, M Anten, Eduard Serra, Miriam J. Smith, Christopher J Hammond, Susan M Huson, Yemima Berman, Marco Giovannini, C Mallucci, Anat Stemmer-Rachamimov, G Tadini, Robert A. Avery, N Rezende, Nicole J. Ullrich, CO Hanemann, SM Stivaros, Hildegard Kehrer-Sawatzki, A Parry, D Kroshinsky, Maurizio Clementi, JT Jordan, A Varan, Joanne Ngeow, A Mueller, G Zadeh, Michel Kalamarides, D Halliday, M Link, Elizabeth K. Schorry, Roger J. Packer, Vanessa L. Merker, David H. Gutmann, Arthur S. Aylsworth, Karin Soares Gonçalves Cunha, V-F Mautner, Amanda L. Bergner, David A. Stevenson, Eric Legius, L Le, M Ruggieri, Fred G. Barker, Ludwine Messiaen, Jan M. Friedman, J. Blakeley, Kaleb Yohay, Katherine A. Rauen, LO Rodrigues

المساهمون: Pediatrics

المصدر: Genetics in Medicine
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkins

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Neurofibromatosis 1, Delphi method, MEDLINE, MUTATION ANALYSIS, MOSAICISM, Patient advocacy, Article, 03 medical and health sciences, 0302 clinical medicine, REVEALS, SEQUENCE VARIANTS, medicine, Humans, Cafe-au-Lait Spots, Genetic Testing, Medical physics, Neurofibromatosis, Genetics (clinical), Genetic testing, Genetics & Heredity, Legius syndrome, Science & Technology, IDENTIFICATION, medicine.diagnostic_test, business.industry, medicine.disease, GENE, 030104 developmental biology, CHOROIDAL ABNORMALITIES, 030220 oncology & carcinogenesis, business, Life Sciences & Biomedicine

وصف الملف: text; application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45cd2826f627d5badf189e97ab322203Test
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdfTest

المؤلفون: Danny Miller, Steven W. Hwang, Paul D. Sponseller, Elizabeth K. Schorry, Jonathan J. Rios, Krishna V. Suresh, Majd Marrache

المصدر: JBJS reviews. 9(7)

مصطلحات موضوعية: medicine.medical_specialty, Neurofibromatosis 1, business.industry, Kyphosis, Scoliosis, Malignancy, medicine.disease, Natural history, Deformity, medicine, Spinal deformity, Humans, Orthopedics and Sports Medicine, Surgery, Radiology, medicine.symptom, Neurofibromatosis, business, Child, Early onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f33d73cf1ad94e553cd3d13807e3891Test
https://pubmed.ncbi.nlm.nih.gov/34297709Test

المؤلفون: Chie Emoto, Nathan Robison, Brigitte C. Widemann, Brian Weiss, Stewart Goldman, Jeffrey C. Allen, James H. Tonsgard, Alexander A. Vinks, Nancy Ratner, Michael Fisher, Jaishri O. Blakeley, Bruce R. Korf, Pamela L. Wolters, Coretta Thomas Robinson, Lloyd J. Edwards, Eva Dombi, Elizabeth K. Schorry, Scott R. Plotkin, Tsuyoshi Fukuda, Gary Cutter, Roger J. Packer

المصدر: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 39(7)

مصطلحات موضوعية: MAPK/ERK pathway, Oncology, Adult, Male, Cancer Research, medicine.medical_specialty, Neurofibromatosis 1, Time Factors, Adolescent, Extracellular signal-regulated kinases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Plexiform neurofibroma, Internal medicine, medicine, Humans, Neurofibromatosis, Protein Kinase Inhibitors, Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, business.industry, MEK inhibitor, Diphenylamine, medicine.disease, Magnetic Resonance Imaging, United States, Clinical trial, Treatment Outcome, 030220 oncology & carcinogenesis, Benzamides, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::782b39baa93c2f345388ea33efabf554Test
https://pubmed.ncbi.nlm.nih.gov/33507822Test

المؤلفون: Kristen L. Sund, Kenneth M. Kaufman, Elizabeth K. Schorry, Cynthia A. Prows, Andrew DiStasio, Biplab Dasgupta, Beth M. Kline-Fath, Ashley M. Driver, Milene Donlin, Ranjith M. Muraleedharan, Rolf W. Stottmann, Shabnam Pooya

المصدر: Human Molecular Genetics. 26:4836-4848

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Microcephaly, WD40 Repeats, Embryonic Development, Biology, medicine.disease_cause, Coatomer Protein, Mice, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Intellectual Disability, Exome Sequencing, Genetics, medicine, Animals, Humans, Allele, Child, Molecular Biology, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Mutation, Homozygote, Articles, General Medicine, medicine.disease, Null allele, COPB2, Phenotype, Pedigree, Disease Models, Animal, Corticogenesis, 030104 developmental biology, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5acbfeea2dc39e8d01767f7eeffca177Test
https://doi.org/10.1093/hmg/ddx362Test