المؤلفون: Weiner, Daniel, Ling, Emi, Erdin, Serkan, Tai, Derek, Yadav, Rachita, Grove, Jakob, Fu, Jack, Nadig, Ajay, Carey, Caitlin, Baya, Nikolas, Bybjerg-Grauholm, Jonas, Berretta, Sabina, Macosko, Evan, Sebat, Jonathan, OConnor, Luke, Hougaard, David, Børglum, Anders, Talkowski, Michael, McCarroll, Steven, Robinson, Elise

المصدر: Nature Genetics, vol 54, iss 11

مصطلحات موضوعية: Humans, Autistic Disorder, DNA Copy Number Variations, Chromosomes, Chromosome Deletion, Human, Pair 16

وصف الملف: application/pdf

العلاقة: qt6h73c4tn; https://escholarship.org/uc/item/6h73c4tnTest; https://escholarship.org/content/qt6h73c4tn/qt6h73c4tn.pdfTest

الإتاحة: https://doi.org/10.1038/s41588-022-01203-yTest
https://escholarship.org/uc/item/6h73c4tnTest
https://escholarship.org/content/qt6h73c4tn/qt6h73c4tn.pdfTest

المؤلفون: Lengyel, Anna, Pinti, Éva, Pikó, Henriett, Jávorszky, Eszter, David, Dezső, Tihanyi, Mariann, Gönczi, Éva, Kiss, Eszter, Tóth, Zsuzsa, Tory, Kálmán, Fekete, György, Haltrich, Irén

مصطلحات موضوعية: Abnormalities, Multiple, Autism Spectrum Disorder, Brain, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Developmental Disabilities, Female, Gene Ontology, Genetic Association Studies, Humans, Hungary, In Situ Hybridization, Fluorescence, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Microarray Analysis, Obesity, Phenotype, Segmental Duplications, Genomic, Sequence Deletion, Tomography Scanners

العلاقة: https://www.sciencedirect.com/science/article/pii/S1769721220300112?via%3DihubTest; Eur J Med Genet. 2020 Oct;63(10):104027. doi:10.1016/j.ejmg.2020.104027. Epub 2020 Aug 3.; http://hdl.handle.net/10400.18/7650Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2020.104027Test
http://hdl.handle.net/10400.18/7650Test

المؤلفون: Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi JL, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H

المساهمون: Shendure, J

المصدر: Genetics, vol 217, iss 2

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Chromosome Breakpoints, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 15, Pair 16, Craniofacial Abnormalities, Developmental Disabilities, Genomic Structural Variation, Heart Defects, Congenital, Humans, Intellectual Disability, Mental Disorders, Segmental Duplications, Genomic, Seizures, Williams Syndrome, genome mapping, structural variation, genomic disorders, Developmental Biology, Biochemistry and cell biology

وصف الملف: application/pdf

العلاقة: qt15562671; https://escholarship.org/uc/item/15562671Test

الإتاحة: https://escholarship.org/uc/item/15562671Test

المؤلفون: Zhang, Lianjun, Nguyen, Le Xuan Truong, Chen, Ying-Chieh, Wu, Dijiong, Cook, Guerry J, Hoang, Dinh Hoa, Brewer, Casey J, He, Xin, Dong, Haojie, Li, Shu, Li, Man, Zhao, Dandan, Qi, Jing, Hua, Wei-Kai, Cai, Qi, Carnahan, Emily, Chen, Wei, Wu, Xiwei, Swiderski, Piotr, Rockne, Russell C, Kortylewski, Marcin, Li, Ling, Zhang, Bin, Marcucci, Guido, Kuo, Ya-Huei

المصدر: Nature Communications, vol 12, iss 1

مصطلحات موضوعية: Medicinal and Biomolecular Chemistry, Chemical Sciences, Pediatric, Pediatric Cancer, Rare Diseases, Cancer, Biotechnology, Childhood Leukemia, Stem Cell Research, Hematology, Pediatric Research Initiative, Genetics, 2.1 Biological and endogenous factors, Aetiology, Animals, Antineoplastic Agents, Calcium-Binding Proteins, Cell Cycle Proteins, Cell Survival, Chromosome Inversion, Chromosomes, Human, Pair 16, EGF Family of Proteins, GATA2 Transcription Factor, Guanine Nucleotide Exchange Factors, Histone Deacetylases, Humans, Karyopherins, Leukemia

الوقت: 6154

وصف الملف: application/pdf

العلاقة: qt4xm3c5w5; https://escholarship.org/uc/item/4xm3c5w5Test

الإتاحة: https://escholarship.org/uc/item/4xm3c5w5Test

المؤلفون: Hu, Yao, Stilp, Adrienne M, McHugh, Caitlin P, Rao, Shuquan, Jain, Deepti, Zheng, Xiuwen, Lane, John, de Bellefon, Sébastian Méric, Raffield, Laura M, Chen, Ming-Huei, Yanek, Lisa R, Wheeler, Marsha, Yao, Yao, Ren, Chunyan, Broome, Jai, Moon, Jee-Young, de Vries, Paul S, Hobbs, Brian D, Sun, Quan, Surendran, Praveen, Brody, Jennifer A, Blackwell, Thomas W, Choquet, Hélène, Ryan, Kathleen, Duggirala, Ravindranath, Heard-Costa, Nancy, Wang, Zhe, Chami, Nathalie, Preuss, Michael H, Min, Nancy, Ekunwe, Lynette, Lange, Leslie A, Cushman, Mary, Faraday, Nauder, Curran, Joanne E, Almasy, Laura, Kundu, Kousik, Smith, Albert V, Gabriel, Stacey, Rotter, Jerome I, Fornage, Myriam, Lloyd-Jones, Donald M, Vasan, Ramachandran S, Smith, Nicholas L, North, Kari E, Boerwinkle, Eric, Becker, Lewis C, Lewis, Joshua P, Abecasis, Goncalo R, Hou, Lifang, O’Connell, Jeffrey R, Morrison, Alanna C, Beaty, Terri H, Kaplan, Robert, Correa, Adolfo, Blangero, John, Jorgenson, Eric, Psaty, Bruce M, Kooperberg, Charles, Walton, Russell T, Kleinstiver, Benjamin P, Tang, Hua, Loos, Ruth JF, Soranzo, Nicole, Butterworth, Adam S, Nickerson, Debbie, Rich, Stephen S, Mitchell, Braxton D, Johnson, Andrew D, Auer, Paul L, Li, Yun, Mathias, Rasika A, Lettre, Guillaume, Pankratz, Nathan, Laurie, Cathy C, Laurie, Cecelia A, Bauer, Daniel E, Conomos, Matthew P, Reiner, Alexander P, Consortium, NHLBI Trans-Omics for Precision Medicine

المصدر: American Journal of Human Genetics, vol 108, iss 5

مصطلحات موضوعية: Epidemiology, Biological Sciences, Health Sciences, Genetics, Biotechnology, Clinical Research, Hematology, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adult, Aged, Chromosomes, Human, Pair 16, Datasets as Topic, Erythrocytes, Female, Gene Editing, Genetic Variation, Genome-Wide Association Study, HEK293 Cells, Humans, Male, Middle Aged, National Heart, Lung, and Blood Institute (U.S.), Phenotype

جغرافية الموضوع: 874 - 893

وصف الملف: application/pdf

العلاقة: qt24j6v92r; https://escholarship.org/uc/item/24j6v92rTest

الإتاحة: https://escholarship.org/uc/item/24j6v92rTest

المؤلفون: Vysotskiy, Mikhail, Zhong, Xue, Miller-Fleming, Tyne W, Zhou, Dan, Cox, Nancy J, Weiss, Lauren A

المصدر: Genome Medicine, vol 13, iss 1

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Mental Health, Genetic Testing, Schizophrenia, Autism, Biotechnology, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Autism Spectrum Disorder, Autistic Disorder, Chromosome Deletion, Chromosome Disorders, Chromosomes, Human, Pair 16, DNA Copy Number Variations, DiGeorge Syndrome, Genotype, Humans, Intellectual Disability, Phenotype, Psychotic Disorders, Scavenger Receptors, Class F

وصف الملف: application/pdf

العلاقة: qt2ft6z860; https://escholarship.org/uc/item/2ft6z860Test

الإتاحة: https://escholarship.org/uc/item/2ft6z860Test

المؤلفون: Urresti, Jorge, Zhang, Pan, Moran-Losada, Patricia, Yu, Nam-Kyung, Negraes, Priscilla D, Trujillo, Cleber A, Antaki, Danny, Amar, Megha, Chau, Kevin, Pramod, Akula Bala, Diedrich, Jolene, Tejwani, Leon, Romero, Sarah, Sebat, Jonathan, Yates III, John R, Muotri, Alysson R, Iakoucheva, Lilia M

المصدر: Molecular Psychiatry, vol 26, iss 12

مصطلحات موضوعية: Stem Cell Research - Induced Pluripotent Stem Cell - Human, Pediatric, Stem Cell Research - Induced Pluripotent Stem Cell, Brain Disorders, Mental Health, Autism, Stem Cell Research - Nonembryonic - Non-Human, Stem Cell Research, Neurosciences, Intellectual and Developmental Disabilities (IDD), 1.1 Normal biological development and functioning, Underpinning research, Neurological, Autism Spectrum Disorder, Autistic Disorder, Brain, Chromosome Deletion, Chromosomes, Human, Pair 16, DNA Copy Number Variations, Humans, Neurogenesis, Organoids, Proteomics, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

الوقت: 7560 - 7580

وصف الملف: application/pdf

العلاقة: qt0hw3w9g4; https://escholarship.org/uc/item/0hw3w9g4Test

الإتاحة: https://escholarship.org/uc/item/0hw3w9g4Test

المساهمون: Jun Eun Park, O Kyu Noh, Yonghee Lee, Hyoung Soo Choi, Jung Woo Han, Seung Min Hahn, Chuhl Joo Lyu, Ji Won Lee, Keon Hee Yoo, Hong Hoe Koo, Seon-Yong Jeong, Ki Woong Sung, Lyu, Chuhl Joo

مصطلحات موضوعية: Child, Preschool, Chromosomes, Human, Pair 16 / genetics, Female, Humans, Infant, Newborn, Loss of Heterozygosity, Male, Prognosis, Republic of Korea, Survival Analysis, Wilms Tumor / genetics, Wilms Tumor / metabolism, Wilms Tumor / mortality, 16q, 1p, Survival, Wilms tumor

وصف الملف: application/pdf

العلاقة: CANCER RESEARCH AND TREATMENT; J00453; OAK-2020-07733; https://ir.ymlib.yonsei.ac.kr/handle/22282913/181425Test; T202005670; CANCER RESEARCH AND TREATMENT, Vol.52(2) : 438-445, 2020-04; 67513

الإتاحة: https://doi.org/10.4143/crt.2019.313Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/181425Test

المؤلفون: Xian, Rena R, Xie, Yi, Haley, Lisa M, Yonescu, Raluca, Pallavajjala, Aparna, Pittaluga, Stefania, Jaffe, Elaine S, Duffield, Amy S, McCall, Chad M, Gheith, Shereen MF, Gocke, Christopher D

المصدر: Blood Cancer Journal, vol 10, iss 6

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Oncology and Carcinogenesis, Human Genome, Rare Diseases, Genetics, Hematology, Clinical Research, Cancer, Biotechnology, Lymphoma, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, CREB-Binding Protein, Chromosome Deletion, Chromosomes, Human, Pair 1, Pair 16, Female, Humans, Follicular, Male, Middle Aged, Mutation, Polymorphism, Single Nucleotide, STAT6 Transcription Factor

وصف الملف: application/pdf

العلاقة: qt39n9r2kj; https://escholarship.org/uc/item/39n9r2kjTest

الإتاحة: https://escholarship.org/uc/item/39n9r2kjTest

المؤلفون: Kim, So Hyun, Green‐Snyder, LeeAnne, Lord, Catherine, Bishop, Somer, Steinman, Kyle J, Bernier, Raphael, Hanson, Ellen, Goin‐Kochel, Robin P, Chung, Wendy K

المصدر: American Journal of Medical Genetics Part B Neuropsychiatric Genetics, vol 183, iss 6

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Neurosciences, Clinical Research, Behavioral and Social Science, Autism, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Adult, Autism Spectrum Disorder, Autistic Disorder, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, Cognitive Dysfunction, DNA Copy Number Variations, Family, Female

جغرافية الموضوع: 380 - 391

وصف الملف: application/pdf

العلاقة: qt6h67t169; https://escholarship.org/uc/item/6h67t169Test

الإتاحة: https://escholarship.org/uc/item/6h67t169Test