المؤلفون: Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, Malicdan, May Christine V

المصدر: American journal of human genetics. 105(2)

مصطلحات موضوعية: Undiagnosed Diseases Network, Cerebellum, Animals, Humans, Drosophila melanogaster, Epilepsy, Nervous System Malformations, Coloboma, Microfilament Proteins, Developmental Disabilities, Amino Acid Sequence, Sequence Homology, Phenotype, Mutation, Adult, Child, Infant, Infant, Newborn, Female, Male, Young Adult, Body Dysmorphic Disorders, Intellectual Disability, WD40 Repeats, CG12333, Drosophila, WD40 repeats, WDR37 domains, bang sensitivity, wdr37, Genetics, Pediatric, Rare Diseases, Congenital Structural Anomalies, Neurodegenerative, Neurosciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Neurological, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8wx8g9p6Test

المؤلفون: Fangusaro, Jason, Onar-Thomas, Arzu, Young Poussaint, Tina, Wu, Shengjie, Ligon, Azra H, Lindeman, Neal, Banerjee, Anuradha, Packer, Roger J, Kilburn, Lindsay B, Goldman, Stewart, Pollack, Ian F, Qaddoumi, Ibrahim, Jakacki, Regina I, Fisher, Paul G, Dhall, Girish, Baxter, Patricia, Kreissman, Susan G, Stewart, Clinton F, Jones, David TW, Pfister, Stefan M, Vezina, Gilbert, Stern, Jessica S, Panigrahy, Ashok, Patay, Zoltan, Tamrazi, Benita, Jones, Jeremy Y, Haque, Sofia S, Enterline, David S, Cha, Soonmee, Fisher, Michael J, Doyle, Laurence Austin, Smith, Malcolm, Dunkel, Ira J, Fouladi, Maryam

المصدر: The Lancet Oncology. 20(7)

مصطلحات موضوعية: Clinical Trials and Supportive Activities, Pediatric Cancer, Brain Cancer, Rare Diseases, Brain Disorders, Clinical Research, Cancer, Pediatric, Neurosciences, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adolescent, Benzimidazoles, Central Nervous System Neoplasms, Child, Child, Preschool, Disease Progression, Female, Glioma, Humans, Male, Neoplasm Grading, Neoplasms, Multiple Primary, Neurofibromatosis 1, Proto-Oncogene Proteins B-raf, Young Adult, Oncology and Carcinogenesis, Oncology & Carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0mh3j5wdTest

المؤلفون: Macnamara, Ellen F, Koehler, Alanna E, D'Souza, Precilla, Estwick, Tyra, Lee, Paul, Vezina, Gilbert, Undiagnosed Diseases Network, Fauni, Harper, Braddock, Stephen R, Torti, Erin, Holt, James Matthew, Sharma, Prashant, Malicdan, May Christine V, Tifft, Cynthia J

المصدر: Human mutation. 40(5)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Hearing Loss, Sensorineural, Syndrome, Genetic Predisposition to Disease, Facies, Tomography, X-Ray Computed, Magnetic Resonance Imaging, Sequence Deletion, Homozygote, Phenotype, Child, Preschool, Male, Genetic Loci, Genetic Association Studies, Solute Carrier Family 12, Member 2, NKCC1, absent salivation, cystic fibrosis, gut malrotation, uniparental isodisomy, Brain Disorders, Clinical Research, Neurosciences, Digestive Diseases, Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Ear, Congenital, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/67x260pjTest

المؤلفون: Warren, Katherine E, Vezina, Gilbert, Poussaint, Tina Y, Warmuth-Metz, Monika, Chamberlain, Marc C, Packer, Roger J, Brandes, Alba A, Reiss, Moshe, Goldman, Stewart, Fisher, Michael J, Pollack, Ian F, Prados, Michael D, Wen, Patrick Y, Chang, Susan M, Dufour, Christelle, Zurakowski, David, Kortmann, Rolf D, Kieran, Mark W

المصدر: Neuro-Oncology. 20(1)

مصطلحات موضوعية: Pediatric, Pediatric Cancer, Rare Diseases, Cancer, Brain Cancer, Brain Disorders, Pediatric Research Initiative, Clinical Research, Neurosciences, Clinical Trials and Supportive Activities, Brain, Brain Neoplasms, Child, Humans, Medulloblastoma, Meningeal Neoplasms, Neoplasm Seeding, Neuroimaging, brain, medulloblastoma, RANO, response, tumor, Oncology and Carcinogenesis, Oncology & Carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3hr3683vTest

المؤلفون: Packer, Roger J, Pfister, Stephan, Bouffet, Eric, Avery, Robert, Bandopadhayay, Pratiti, Bornhorst, Miriam, Bowers, Daniel C, Ellison, David, Fangusaro, Jason, Foreman, Nicholas, Fouladi, Maryam, Gajjar, Amar, Haas-Kogan, Daphne, Hawkins, Cynthia, Ho, Cheng-Ying, Hwang, Eugene, Jabado, Nada, Kilburn, Lindsay B, Lassaletta, Alvaro, Ligon, Keith L, Massimino, Maura, Meeteren, Schouten-van, Mueller, Sabine, Nicolaides, Theo, Perilongo, Giorgio, Tabori, Uri, Vezina, Gilbert, Warren, Katherine, Witt, Olaf, Zhu, Yuan, Jones, David T, Kieran, Mark

المصدر: Neuro-Oncology. 19(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Pediatric, Neurosciences, Brain Cancer, Cancer, Brain Disorders, Good Health and Well Being, Brain Neoplasms, Child, Glioma, Humans, Molecular Targeted Therapy, Signal Transduction, low-grade glioma, neurofibromatosis type 1, pediatric brain tumor, pilocytic astrocytoma, RAS/MAPK pathway, Oncology & Carcinogenesis, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7985133kTest

المؤلفون: Ater, Joann L, Zhou, Tianni, Holmes, Emiko, Mazewski, Claire M, Booth, Timothy N, Freyer, David R, Lazarus, Ken H, Packer, Roger J, Prados, Michael, Sposto, Richard, Vezina, Gilbert, Wisoff, Jeffrey H, Pollack, Ian F

المصدر: Journal of Clinical Oncology. 30(21)

مصطلحات موضوعية: Brain Cancer, Orphan Drug, Clinical Research, Clinical Trials and Supportive Activities, Cancer, Pediatric, Pediatric Research Initiative, Pediatric Cancer, Rare Diseases, Brain Disorders, Neurosciences, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Antineoplastic Combined Chemotherapy Protocols, Brain Neoplasms, Carboplatin, Central Nervous System Neoplasms, Child, Child, Preschool, Drug Administration Schedule, Female, Glioma, Humans, Infant, Lomustine, Male, Multivariate Analysis, Procarbazine, Prognosis, Risk Factors, Spinal Cord Neoplasms, Thioguanine, Treatment Outcome, Vincristine, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5n95q6xbTest