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المؤلفون: Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh
المساهمون: Pediatrics
المصدر: Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins
مصطلحات موضوعية: Neurofibromatosis 2, Consensus, Neurofibromatosis 1, Skin Neoplasms, Neurofibromatoses, NF2, Neurofibromatosis, SMARCB1, Schwannomatosis, lztr1, Humans, Genetics (clinical), Neurilemmoma
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af050a10db9d27e206369bb2b357dc2Test
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2cTest -
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المؤلفون: Jenny Garzon, Andrea Patete, Carolyn Serbinski, Madison Hankins, Michael Sawin, Allison Weisman, Katherine Kim, Joel Charrow, Robert Listernick, Carlos Prada
المصدر: Thursday, April 27.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e8427306e11542fa130311144ec578adTest
https://doi.org/10.1212/wnl.0000000000201983Test -
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المؤلفون: Chelsea Kotch, Robert Avery, Kelly D Getz, Eric Bouffet, Peter de Blank, Robert Listernick, David H Gutmann, Miriam Bornhorst, Cynthia Campen, Grant T Liu, Richard Aplenc, Yimei Li, Michael J Fisher
المصدر: Neuro Oncol
مصطلحات موضوعية: Optic Nerve Glioma, Cancer Research, Neurofibromatosis 1, Oncology, Brain Neoplasms, Risk Factors, Humans, Neurology (clinical), Neoplasm Recurrence, Local, Child, Pediatric Neuro-Oncology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2b092f68177dc6608e1ee7f3d4cb21Test
https://doi.org/10.1093/neuonc/noac013Test -
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المؤلفون: Michael J Fisher, Jaishri O Blakeley, Brian D Weiss, Eva Dombi, Shivani Ahlawat, Srivandana Akshintala, Allan J Belzberg, Miriam Bornhorst, Miriam A Bredella, Wenli Cai, Rosalie E Ferner, Andrea M Gross, Gordon J Harris, Robert Listernick, Ina Ly, Staci Martin, Victor F Mautner, Johannes M Salamon, Kilian E Salerno, Robert J Spinner, Verena Staedtke, Nicole J Ullrich, Meena Upadhyaya, Pamela L Wolters, Kaleb Yohay, Brigitte C Widemann
المصدر: Neuro Oncol
مصطلحات موضوعية: Neurofibroma, Plexiform, Cancer Research, Neurofibromatosis 1, Oncology, Reviews, Humans, Neurology (clinical), Protein Kinase Inhibitors, Nerve Sheath Neoplasms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a4695aac35e162cfd3fadd730cbdd2Test
https://europepmc.org/articles/PMC9629437Test/ -
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المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura
المصدر: Human Mutation. 41:299-315
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94e416d43f4f6e31d2ae02dd86a7d5e7Test
https://doi.org/10.1002/humu.23929Test -
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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 & Wilkinsمصطلحات 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 -
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المؤلفون: Sally E. Jensen, Jin Shei Lai, Joel Charrow, Robert Listernick, Zabin S. Patel
المصدر: Journal of Clinical Psychology in Medical Settings. 26:259-270
مصطلحات موضوعية: Adult, Male, Parents, Neurofibromatosis 1, Adolescent, Interviews as Topic, Young Adult, Age Distribution, medicine, Humans, Neurofibromatosis, Child, Aged, Social functioning, Neurofibroma, Plexiform, business.industry, Chronic pain, Erikson's stages of psychosocial development, Secondary data, Middle Aged, medicine.disease, Clinical Psychology, Health psychology, Family planning, Child, Preschool, Developmental Milestone, Disease Progression, Female, Chronic Pain, business, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2841abe336b5f7002c7539d8b6019430Test
https://doi.org/10.1007/s10880-018-9584-5Test -
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المصدر: American journal of ophthalmology. 221
مصطلحات موضوعية: Male, Optic Nerve Glioma, medicine.medical_specialty, Visual acuity, Neurofibromatosis 1, genetic structures, Adolescent, Optic Disk, Vision Disorders, Visual Acuity, Antineoplastic Agents, Ophthalmologic Surgical Procedures, Asymptomatic, Pallor, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Ophthalmology, medicine, Humans, Neurofibromatosis, Child, 030304 developmental biology, Retrospective Studies, 0303 health sciences, business.industry, Optic Nerve Neoplasms, Retrospective cohort study, medicine.disease, Combined Modality Therapy, eye diseases, Optic Chiasm, Cohort, 030221 ophthalmology & optometry, Optic nerve, Female, sense organs, medicine.symptom, Presentation (obstetrics), business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab026e531b8a9f088b7fea897012db87Test
https://pubmed.ncbi.nlm.nih.gov/32283094Test -
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المؤلفون: Michael Fisher, Brigitte C. Widemann, Bruce R. Korf, Grant T. Liu, James A. Katowitz, Kelly A. Hutcheson, Robert Listernick, Roger J. Packer, Eva Dombi, William P. Madigan, Gena Heidary, Robert A. Avery, Jerry E. Berland, Edmond J. FitzGibbon
المصدر: Ophthalmology. 124:123-132
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, business.industry, medicine.disease, Surgery, Clinical trial, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, Ptosis, Multidisciplinary approach, Plexiform neurofibroma, 030221 ophthalmology & optometry, medicine, Medical genetics, Pediatric ophthalmology, Clinical significance, medicine.symptom, Neurofibromatosis, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ab77a8c99a4e9032d450856163c44048Test
https://doi.org/10.1016/j.ophtha.2016.09.020Test -
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المؤلفون: Joel Charrow, Zabin S. Patel, Robert Listernick, Sally E. Jensen, Jin Shei Lai
المصدر: American Journal of Medical Genetics Part A. 173:79-87
مصطلحات موضوعية: Adult, Male, Neurofibromatosis 1, Adolescent, Physical function, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Physical functioning, Surveys and Questionnaires, Genetics, Humans, Medicine, Neurofibromatosis, Child, Qualitative Research, Genetics (clinical), Aged, Neurofibroma, Plexiform, business.industry, Patient-centered outcomes, Middle Aged, Disfigurement, medicine.disease, Patient Outcome Assessment, Phenotype, Socioeconomic Factors, Conceptual framework, Child, Preschool, 030220 oncology & carcinogenesis, Quality of Life, Anxiety, Female, Self Report, medicine.symptom, business, 030217 neurology & neurosurgery, Qualitative research, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d0fdb7bc36d5a410ae5e51de232989Test
https://doi.org/10.1002/ajmg.a.37987Test
