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1دورية أكاديمية
المؤلفون: Remeseiro, Silvia, Cuadrado, Ana, Kawauchi, Shimako, Calof, Anne L, Lander, Arthur D, Losada, Ana
المصدر: Biochimica et biophysica acta. 1832(12)
مصطلحات موضوعية: Brain, Cells, Cultured, Fibroblasts, Animals, Mice, Knockout, Mice, De Lange Syndrome, Disease Models, Animal, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, Transcription Factors, RNA, Messenger, Fluorescent Antibody Technique, Blotting, Western, In Situ Hybridization, Fluorescence, Reverse Transcriptase Polymerase Chain Reaction, Chromosome Segregation, Cell Survival, DNA Repair, DNA Replication, Transcription, Genetic, Heterozygote, Phenotype, Embryo, Mammalian, Promoter Regions, Genetic, Real-Time Polymerase Chain Reaction, Cohesin, Cornelia de Lange Syndrome, Mouse model, Nibpl, Transcription, Cells, Cultured, Knockout, Disease Models, Animal, Chromosomal Proteins, Non-Histone, RNA, Messenger, Blotting, Western, In Situ Hybridization, Fluorescence, Genetic, Embryo, Mammalian, Promoter Regions, Intellectual and Developmental Disabilities, Neurosciences, Brain Disorders, Pediatric, Rare Diseases, Genetics, 2.1 Biological and endogenous factors, Congenital Disorders, Biological Sciences, Physical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/03h363zc
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2دورية أكاديمية
المؤلفون: Duong Chi Thanh, Can Thi Bich Ngoc, Ngoc-Lan Nguyen, Chi Dung Vu, Nguyen Van Tung, Huy Hoang Nguyen
المصدر: Medicina, Vol 56, Iss 2, p 76 (2020)
مصطلحات موضوعية: cornelia de lange, de novo mutation, nibpl, c.6697g>, c.2602c>, c.4504delg, whole exome sequencing, Medicine (General), R5-920
وصف الملف: electronic resource
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المؤلفون: Chi Dung Vu, Can Thi Bich Ngoc, Duong Chi Thanh, Huy Hoang Nguyen, Ngoc-Lan Nguyen, Nguyen Van Tung
المصدر: Medicina, Vol 56, Iss 2, p 76 (2020)
Medicinaمصطلحات موضوعية: Cornelia de Lange Syndrome, Cohesin complex, In silico, Case Report, Disease, whole exome sequencing, medicine, c.2602c>, Gene, Exome sequencing, Genetics, NIBPL, lcsh:R5-920, business.industry, c.2602C>T, c.6697g>, NIPBL, General Medicine, c.6697G>A, medicine.disease, Phenotype, de novo mutation, cornelia de lange, business, lcsh:Medicine (General), nibpl, c.4504delg
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d18e4a55944528a079423e05ab4705d
https://www.mdpi.com/1010-660X/56/2/76 -
4دورية أكاديمية
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المؤلفون: Minina, Elena A., Reza, Salim Hossaim, Gutiérrez-Beltrán, Emilio, Elander, Pernilla H., Bozhkov, Peter V., Moschou, Panagiotis N.
المساهمون: The Erling-Persson Family Foundation, Swedish Research Council, Swedish Foundation for Strategic Research, Olle Engkvist Foundation, Knut and Alice Wallenberg Foundation, Carl Trygger Foundation
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Scc2, NIBPL, Scc4, Cohesin-loading complex, Embryogenesis, Arabidopsis, Auxin, MAU2
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3fcb5487a2d59b2877243d2da1d166f9
http://hdl.handle.net/10261/190031 -
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المؤلفون: Silvia Remeseiro, Anne L. Calof, Ana Cuadrado, Shimako Kawauchi, Arthur D. Lander, Ana Losada
المصدر: Remeseiro, S; Cuadrado, A; Kawauchi, S; Calof, AL; Lander, AD; & Losada, A. (2013). Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome. Biochimica et Biophysica Acta-Molecular Basis of Disease, 1832(12), 2097-2102. doi: 10.1016/j.bbadis.2013.07.020. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/03h363zc
مصطلحات موضوعية: DNA Repair, Transcription, Genetic, Chromosomal Proteins, Non-Histone, Fluorescent Antibody Technique, Cell Cycle Proteins, Chromosome segregation, Nibpl, Mice, 0302 clinical medicine, Chromosome Segregation, De Lange Syndrome, Promoter Regions, Genetic, Cells, Cultured, In Situ Hybridization, Fluorescence, Genetics, Mice, Knockout, Cohesin, 0303 health sciences, Reverse Transcriptase Polymerase Chain Reaction, Genetic disorder, Brain, Phenotype, Molecular Medicine, biological phenomena, cell phenomena, and immunity, Transcription, DNA Replication, Heterozygote, Cornelia de Lange Syndrome, DNA repair, Cell Survival, Blotting, Western, Biology, Real-Time Polymerase Chain Reaction, Article, Mouse model, 03 medical and health sciences, medicine, Animals, RNA, Messenger, Molecular Biology, 030304 developmental biology, Cohesin loading, Promoter, NIPBL, Fibroblasts, medicine.disease, Embryo, Mammalian, Disease Models, Animal, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/pdf
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7دورية أكاديمية
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8مورد إلكتروني