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1دورية أكاديمية
المؤلفون: Suresh, Varun, Bhattacharya, Bidisha, Tshuva, Rami, Danan Gotthold, Miri, Olender, Tsviya, Bose, Mahima, Pradhan, Saurabh, Zeev, Bruria, Smith, Richard, Tole, Shubha, Galande, Sanjeev, Harwell, Corey, Baizabal, José-Manuel, Reiner, Orly
مصطلحات موضوعية: 1p36 deletion syndrome, LHX2, PRDM16, brain development, cerebral organoids, human disease model
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6kh6c49k
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2دورية أكاديمية
المؤلفون: Yang, HuanhuanAff1, Aff2, Huang, JunAff1, Aff2, Zheng, Hao, Zhang, YunfanAff1, Aff2, Zhang, YuanzhenAff2, Aff4, Liu, Wei, Wu, Jinrong, Chen, Xiaobin, Lin, Jinfeng, Ni, Yanna, Nie, XiaojingAff1, Aff2, Aff4, IDs12920023017234_cor11
المصدر: BMC Medical Genomics. 16(1)
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3دورية أكاديمية
المؤلفون: Huanhuan Yang, Jun Huang, Hao Zheng, Yunfan Zhang, Yuanzhen Zhang, Wei Liu, Jinrong Wu, Xiaobin Chen, Jinfeng Lin, Yanna Ni, Xiaojing Nie
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-6 (2023)
مصطلحات موضوعية: 1p36 deletion, IRH, Haploinsufficiency, Genotype-phenotype correlation, Copy number variation, Gene sequencing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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4دورية أكاديمية
المؤلفون: Midhat Zihra, Ibad Rehmaan, Saman Amjed, Khawar Abbass, Ata ullah Khan, Anwaar ul Haq, Hashim Talib Hashim, Khadija Iqbal, Ahmed Dheyaa Al‐Obaidi, Ahmed Qasim Mohammed Alhatemi, Ali Talib Hashim
المصدر: Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024)
مصطلحات موضوعية: 1p36 deletion syndrome, congenital diaphragmatic hernia, Hemidiaphragmatic hernia, pediatric, tension pneumothorax, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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5دورية أكاديمية
المؤلفون: M. Yu. Bobylova, O. V. Konurina, N. A. Borovikova, V. A. Chadaev
المصدر: Русский журнал детской неврологии, Vol 17, Iss 2, Pp 37-46 (2022)
مصطلحات موضوعية: микроделеционный синдром короткого плеча 1 хромосомы 1p36, эпилептическая энцефалопатия, эпилепсия, энцефалопатия развития, электроэнцефалография, видеоэлектроэнцефалографический мониторинг, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Jiazhong Ren, Zheng Fu, Yaqing Zhao
المصدر: Frontiers in Oncology, Vol 13 (2023)
مصطلحات موضوعية: neuroblastoma, ganglioneuroblastoma, 18F-FDG PET/CT, MYCN, 1p36, 11q, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Carter, Lauren B, Battaglia, Agatino, Cherry, Athena, Manning, Melanie A, Ruzhnikov, Maura RZ, Bird, Lynne M, Dowsett, Leah, Graham, John M, Alkuraya, Fowzan S, Hashem, Mais, Dinulos, Mary Beth, Vallee, Stephanie, Adam, Margaret P, Glass, Ian, Beck, Anita E, Stevens, Cathy A, Zackai, Elaine, McDougall, Carey, Keena, Beth, Peron, Angela, Vignoli, Aglaia, Seaver, Laurie H, Slavin, Thomas P, Hudgins, Louanne
المصدر: American Journal of Medical Genetics Part A. 179(8)
مصطلحات موضوعية: Perinatal Period - Conditions Originating in Perinatal Period, Infant Mortality, Epilepsy, Neurosciences, Clinical Research, Pediatric, Brain Disorders, Neurodegenerative, Physical Injury - Accidents and Adverse Effects, Intellectual and Developmental Disabilities (IDD), Preterm, Low Birth Weight and Health of the Newborn, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Mental health, Neurological, Good Health and Well Being, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 1, Diagnosis, Differential, Female, Humans, Hypoxia-Ischemia, Brain, Infant, Newborn, Male, Phenotype, Pregnancy, Psychological Distress, 1p36, distress, hypoxic ischemic encephalopathy, Genetics, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8dn5g2fq
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8دورية أكاديمية
المؤلفون: Zhi‐Xia Yue, Tian‐Yu Xing, Wen Zhao, Qian Zhao, Xi‐Si Wang, Yan Su, Chao Gao, Shu‐Guang Liu, Xiao‐Li Ma
المصدر: Cancer Medicine, Vol 11, Iss 8, Pp 1837-1849 (2022)
مصطلحات موضوعية: 11q23 LOH, 1p36 LOH, bone marrow metastasis, fluorescence in situ hybridization, MYCN amplification, neuroblastoma, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-7634
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9دورية أكاديمية
المؤلفون: Jordan, Valerie K, Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J, Balci, Tugce B, Carter, Melissa T, Bernat, John A, Moccia, Amanda N, Srivastava, Anshika, Martin, Donna M, Bielas, Stephanie L, Pappas, John, Svoboda, Melissa D, Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M, Scaglia, Fernando, Network, Undiagnosed Diseases, Kohler, Jennefer N, Bernstein, Jonathan A, Dries, Annika M, Rosenfeld, Jill A, DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H, Bi, Weimin, Scott, Daryl A
المصدر: Human Mutation. 39(5)
مصطلحات موضوعية: Congenital Structural Anomalies, Genetics, Genetic Testing, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Carrier Proteins, Child, Preschool, Fatal Outcome, Female, Genetic Association Studies, Humans, Infant, Male, Mutation, Young Adult, 1p36 deletion syndrome, CHARGE syndrome, CHD7, genotype-phenotype correlations, NEDBEH, RERE, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/57z6f57h
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10دورية أكاديمية
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