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1دورية أكاديمية
المؤلفون: Wu, Yao, Lu, Yuan-Chiao, Kapse, Kushal, Jacobs, Marni, Andescavage, Nickie, Donofrio, Mary T, Lopez, Catherine, Quistorff, Jessica Lynn, Vezina, Gilbert, Krishnan, Anita, du Plessis, Adré J, Limperopoulos, Catherine
المصدر: Cerebral Cortex. 32(13)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Perinatal Period - Conditions Originating in Perinatal Period, Clinical Research, Heart Disease, Congenital Structural Anomalies, Infant Mortality, Cardiovascular, Pediatric, Neurosciences, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Brain, Female, Fetus, Heart Defects, Congenital, Humans, Magnetic Resonance Imaging, Pregnancy, Pregnancy Trimester, Second, cortical sulcal depth, subplate thickness, subplate volume, Psychology, Cognitive Sciences, Experimental Psychology, Biological psychology, Cognitive and computational psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3xv6w0mfTest
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2دورية أكاديمية
المؤلفون: Ebrahim, Anusha, Wolfenson, Zoe, Jean-Marie, Orpa, Wahl, Colleen, Vezina, Gilbert, Gahl, William, Toro, Camilo
المصدر: Genetics in Medicine Open ; volume 2, page 101277 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2024.101277Test
https://api.elsevier.com/content/article/PII:S2949774424004230?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424004230?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Pradhan, Subechhya, Kapse, Kushal, Jacobs, Marni, Niforatos-Andescavage, Nickie, Quistorff, Jessica Lynn, Lopez, Catherine, Bannantine, Kathryn Lee, Andersen, Nicole Reinholdt, Vezina, Gilbert, Limperopoulos, Catherine
مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Biomedical Imaging, Pediatric, Perinatal Period - Conditions Originating in Perinatal Period, Clinical Research, Neurosciences, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Reproductive health and childbirth, Adult, Aspartic Acid, Brain, Choline, Creatine, Female, Fetal Development, Gestational Age, Humans, Magnetic Resonance Imaging, Pregnancy, Pregnancy Trimester, Second, Pregnancy Trimester, Third, Prospective Studies, Proton Magnetic Resonance Spectroscopy, Reference Values, Fetal brain, Magnetic resonance spectroscopy, Metabolites, Normative, CRLB, Metabolite trajectory, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1jf9p6bnTest
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4دورية أكاديمية
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
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5دورية أكاديمية
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
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6دورية أكاديميةKilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
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
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7دورية أكاديمية
المؤلفون: De Asis-Cruz, Josepheen, Kim, Jung-Hoon, Krishnamurthy, Dhineshvikram, Lopez, Catherine, Kapse, Kushal, Andescavage, Nickie, Vezina, Gilbert, Limperopoulos, Catherine
المساهمون: Canadian Institutes of Health Research, National Institutes of Health, National Heart Lung and Blood Institute, A. James and Alice B. Clark Foundation
المصدر: Developmental Cognitive Neuroscience ; volume 63, page 101282 ; ISSN 1878-9293
مصطلحات موضوعية: Cognitive Neuroscience
الإتاحة: https://doi.org/10.1016/j.dcn.2023.101282Test
https://api.elsevier.com/content/article/PII:S1878929323000877?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1878929323000877?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Frost, F. Graeme, Morimoto, Marie, Sharma, Prashant, Ruaud, Lyse, Belnap, Newell, Calame, Daniel G., Uchiyama, Yuri, Matsumoto, Naomichi, Oud, Machteld M., Ferreira, Elise A., Narayanan, Vinodh, Rangasamy, Sampath, Huentelman, Matt, Emrick, Lisa T., Sato-Shirai, Ikuko, Kumada, Satoko, Wolf, Nicole I., Steinbach, Peter J., Huang, Yan, Pusey, Barbara N., Passemard, Sandrine, Levy, Jonathan, Drunat, Séverine, Vincent, Marie, Guet, Agnès, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria Cristina, Rosenfeld, Jill A., Murphy, Jennifer L., Lupski, James R., Vezina, Gilbert, Macnamara, Ellen F., Adams, David R., Acosta, Maria T., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.
المصدر: The American Journal of Human Genetics ; volume 110, issue 4, page 663-680 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1016/j.ajhg.2023.03.001Test
https://api.elsevier.com/content/article/PII:S000292972300085X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292972300085X?httpAccept=text/plainTest -
9دورية أكاديمية
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
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10دورية أكاديمية
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